Showing posts with label broader autism phenotype (BAP). Show all posts
Showing posts with label broader autism phenotype (BAP). Show all posts

Monday, 17 June 2019

Following ADHD long-term: "a persistence rate of 27.8%"

Studies such as the one published by Michel Lecendreux and colleagues [1] always catch my attention. Research that follows a group of people over a period of years makes for interesting reading; not least because one gets a flavour for what *could* happen when such findings are applied to a larger population.

The Lecendreux findings focused on a few important issues pertinent to a diagnosis of attention-deficit hyperactivity disorder (ADHD) specifically related to (a) the persistence of ADHD, and (b) the idea that signs and symptoms of ADHD not meeting the thresholds for a diagnosis of ADHD might be rather important. Indeed, that they may merit "a subthreshold diagnostic category" of their own.

So, based on a starting participant sample of just over a thousand families including a child in the "6-12 years age range", interviews were conducted covering various aspects of ADHD and beyond: "symptoms of ADHD, conduct disorder, and oppositional defiant disorder as well as family living situation, school performance, sleep disturbance, eating habits, use of supplemental iron, and history of ADHD treatment." Approaching half of the original sample (492 / 1012) were followed up some 9 years later where "the persistence of ADHD and its impairments and the emergence of new conditions were assessed."

Results: "At follow-up, 16.7% of the children diagnosed with ADHD at baseline met full criteria for ADHD and 11.1% met criteria for subthreshold ADHD, yielding a persistence rate of 27.8%." Diagnosis of ADHD was, by the way, based on DSM-5 criteria (see here). That figure of 27.8% in terms of ADHD persistence from childhood to early adulthood is potentially an important one. It tells us that for a majority of children diagnosed with ADHD in childhood, their symptoms of inattention, hyperactivity and impulsivity will reduce to such a degree that they are no longer considered clinically significant or at least not reaching thresholds for a diagnosis of ADHD. Whether such a reduction in symptoms is through processes such as maturation or the timely implementation of intervention/management strategies needs quite a bit more work. Whether also ADHD potentially 'morphs' into something else as people age also needs further exploration (see here).

Another important detail was also mentioned by Lecendreux et al: "Among children not diagnosed with ADHD at baseline, 1.1% met criteria for ADHD at follow-up." Such a figure is important in relation to the concept of adult-onset ADHD [2] and the question of whether ADHD is a diagnosis with foundations always rooted in infancy. The Lecendreux findings suggest that for some people, this might not be the case and opens the door to possible talk about acquired ADHD for examples. This also sounds very familiar (see here).

Insofar as the issue of a possible 'subthreshold diagnostic category' for ADHD, I find myself agreeing with the "dimensional conceptualization" mentioned by the authors. Several other conditions / states / diagnoses have recognised 'lite versions' of the label. In autism for example, one might see this as social communication disorder (SCD) or mention of the broader autism phenotype (BAP). I'm even minded to place the label known as pathological demand avoidance (PDA) in a similar bracket given recent opinions (see here). Such chatter about 'lite' does not and should not downplay the effects of such sub-threshold labels. It merely acknowledges that there may be a wider spectrum of issues / difficulties experienced outside of the receipt of a core diagnosis.

So it should perhaps be the same with ADHD too, given what is beginning to emerge on the long-term 'effects' that a diagnosis of ADHD and subthreshold ADHD might bring (see here and see here).

----------

[1] Lecendreux M. et al. A 9-Year Follow-Up of Attention-Deficit/Hyperactivity Disorder in a Population Sample. J Clin Psychiatry. 2019 May 7;80(3). pii: 18m12642.

[2] Cooper M. et al. Investigating late-onset ADHD: a population cohort investigation. J Child Psychol Psychiatry. 2018 Oct;59(10):1105-1113.

----------

Tuesday, 28 May 2019

Breastfeeding and autism continued

"We found that the percentage of mothers who started breastfeeding was similar between the two groups, but mothers of children with ASD [autism spectrum disorder] breastfed for a shorter amount of time compared to mothers of children without ASD."

So said the findings reported by Gnakub Soke and colleagues [1] continuing a research theme that I've had some professional interest in down the years (see here) on whether breastfeeding (use, duration, etc) *might* have some important *links* to risk of offspring autism and/or related conditions (see here). The same caveats mention in some of my other musings on this topic come into effect when talking (briefly) about the Soke findings (i.e. no-one is saying that a lack of breastfeeding 'causes' autism). That being said, there might still however be some important science to do on how breastfeeding and/or the constituents of breast milk might have some important biological effects for the developing child (minus any psychobabble explanations).

The Study to Explore Early Development or SEED was the starting point for the Soke study (continuing an autism research theme), and specifically investigation into the: "associations between ASD and breastfeeding initiation (yes/no) and duration (months categorized in tertiles)." The findings suggested that (a) breastfeeding rates (initiation rates) were high in mums of children with ASD compared to not-autism controls (85% vs. 90%), and (b) "mothers of children with ASD were less likely to report duration of breastfeeding in the high (≥12 months) versus low tertile (<6 months)... or the middle (6-<12 months) versus low tertile."

I don't want to dwell too much on the whys-and-wherefores of the Soke findings but there are some important questions that need answering. Not least the question of why breastfeeding seems to end quicker for those mums of children who were subsequently diagnosed as having an ASD. Were these infants more difficult to feed (something which Kanner might have picked up on in his seminal paper describing autism)? What role does the presentation of the 'broader autism phenotype' (BAP) in mothers mentioned by Soke et al play in such findings? That last point in particular, draws on the need for lots more research into the experience of pregnancy and motherhood with the BAP (see here) and/or autism in mind (see here).

----------

[1] Soke GN. et al. Association Between Breastfeeding Initiation and Duration and Autism Spectrum Disorder in Preschool Children Enrolled in the Study to Explore Early Development. Autism Res. 2019 Mar 9.

----------

Friday, 5 October 2018

ALSPAC says... frequency of depression during pregnancy has increased over time

Yes, it's yet another 'ALSPAC [Avon Longitudinal Study of Parents and Children] says...' post today, and the findings reported by Rebecca Pearson and colleagues [1] observing that "prenatal depression is on average 51% more common among young mothers in the current generation of the ALSPAC cohort than during their mothers’ generation 25 years ago."

Having already attracted some media attention (see here), the aim of the current study was to "compare prenatal depression prevalence in young women across time." Because ALSPAC is a longitudinal study (following participants across some quite long periods of time) also involving several generations of the same families, it was ideally placed to compare depressive symptoms during pregnancy across different temporal cohorts.

And compare it did, as responses to the Edinburgh Postnatal Depression Scale (EPDS) were analysed from those in the original ALSPAC cohort participating in the early 1990s (N=2390) compared with those second-generation ALSPAC participants (G1: 2012-2016, N=180), including "66 mother-offspring pairs." All participants were aged between 19-24 years of age at the time of pregnancy assessment and, to reiterate, all "had the same measure of prenatal depression assessed at approximately the same time in pregnancy."

Results: well, alongside some potentially important differences between the two cohorts - "ALSPAC-G1 women were more likely to have achieved A-Levels and were less likely to smoke, but were more likely to take antidepressants" - the study suggested that reaching cut-off scores on the EPDS (≥13) was about 50% more likely in the G1 (younger) cohort. The strength of this 'association' actually increased when researchers took into account other variables potentially likely to affect the study results such as "age, BMI, smoking, parity, and education." They also noted that: "Restricting the analyses to the 66 mother-offspring pairs and accounting for clustering of pairs, we found a virtually identical association, but with wider a confidence interval."

Caveats? Well, one needs to remember that this was a study based on one self-report questionnaire which includes 10 questions answered on a scale from 'not at all' to 'most of the time' (or something similar). It's useful in the context of depression over the course of pregnancy but, as per the instructions for completion, only provides a snapshot (over the past 7 days), so please keep that in mind. The authors are also quite specific in their discussion about the applicability of their results, bearing in mind the age of their cohort(s) and the fact that: "The ALSPAC population largely consists of white European individuals."

That all being said, the findings are interesting and certainly worthy of further inspection and study. The authors go through the possible hows-and-whys of their findings; heading down the path that something(s) in the environment has changed over the decades and could be related to mechanisms. So: "This [younger] generation of young women has also experienced rapid change in technology, internet, and social media use, which has been associated with increased feelings of depression and social isolation and changes to social relationships." They also mention words like 'chronic stress' and 'sedentary lifestyle' as perhaps influencing the wider increase in depression that seems to be present these days. Whilst important (see here for example), I'm not totally convinced that the rise in depression or depressive symptoms is necessarily just a product of such modern living. Take 'chronic stress' for example; are we saying that young mothers-to-be are more stressed now than during the 1990s? I'm also minded to point out that the physical environment has also changed somewhat in the intervening years, as per the comment by the authors about G1 women being "more likely to take antidepressants." I don't doubt that there have been other 'chemical' changes too; some of which might be important.

Oh, there's another possibility too: I've talked about research using the EPDS before on this blog (see here). On that particular research occasion [2] an observation was made suggesting that "pregnant women with broader autism phenotype (BAP) showed an increased risk for developing postpartum depression (PPD)." Not to try and make connections where none may exist, but I'm wondering whether Pearson et al or someone else from ALSPAC might want to have a look-see whether this could be relevant to their current findings. Well, it's not as if ALSPAC don't have data on autistic traits for example (see here) and set against more recent ALSPAC research findings (see here), there's another hypothesis to be tested.

And as if to prove a point, the findings reported by Hirokawa and colleagues [3] observing that the BAP and postpartum depression might be *linked* should also be [carefully] introduced as part of the research conversation...

----------

[1] Pearson MR. et al. Prevalence of Prenatal Depression Symptoms Among 2 Generations of Pregnant Mothers. JAMA Network Open. 2018; 1: e180725.

[2] Asano R. et al. Broader autism phenotype as a risk factor for postpartum depression: Hamamatsu Birth Cohort (HBC) Study. Research in Autism Spectrum Disorders. 2014; 8: 1672-1678.

[3] Hirokawa K. et al. Associations between broader autism phenotype (BAP) and maternal attachment are moderated by maternal postpartum depression when infants are one month old: A prospective study of the Japan environment & children's study. J Affect Disord. 2018 Sep 19;243:485-493.

----------

Tuesday, 14 August 2018

Autistic traits carrying a 'cognitive cost' into old age?

I don't think anyone should be too alarmed at the findings reported by Gavin Stewart and colleagues [1]. But their observation that "autism traits as measured by the BAPQ [Broad Autism Phenotype Questionnaire] may confer additional risk of cognitive decline in aging" represents something that requires quite a bit of further investigation.

Some twenty 'older' adults who were questioned and deemed to have met criteria for the broader autism phenotype (BAP) were tested on skills related to executive function alongside episodic memory. Their results were compared with twenty 'older' adults who did not reach criteria for the BAP. Authors reported that: "Despite no differences in age, sex ratio, educational history or IQ, the BAP group demonstrated poorer performance on measures of executive function and episodic memory compared to the COA [control older adults] group." They interpret this in the context of that 'additional risk of cognitive decline in aging'.

The numbers of participants in the Stewart study were low and imply that one has to be quite careful about making any sweeping generalisations as a result. Bear also in mind that the BAP does not necessarily equal autism or autism spectrum disorder (ASD) as a function of it describing sub-threshold autistic traits (sub-threshold for a diagnosis). Traits, I might add, that are seemingly not just potentially representative of autism (see here for one example).

But set within a 'gap' in the research base looking at autism in older adults (see here), there is a scheme of work to follow. If for example, the Stewart 'trend' does overlap with the experiences of older adults on the autism spectrum in terms of 'cognitive decline', there is a whole barrage of potentially important implications to consider. More so when one considers that the autism prevalence data continues to head in only one direction (see here) and what this means for societal financial and resource planning.

Just before I go, one more detail was revealed in the Stewart paper: "Older adults who met the BAP criteria also reported higher levels of depression and anxiety." Continuing a theme on this blog that various over-represented issues/diagnoses in relation to autism might not be best described as just being 'comorbid' (see here and see here and see here), I believe that this finding adds further weight to the notion that autistic traits (clinical and sub-clinical) might have some important 'direct' relationships with other psychopathology. Not necessarily a welcome opinion in some quarters, but something that also requires a lot more investigation.

----------

[1] Stewart GR. et al. Aging with elevated autistic traits: Cognitive functioning among older adults with the broad autism phenotype. Research in Autism Spectrum Disorders. 2018; 54: 27-36.

----------

Monday, 18 June 2018

Selective mutism and autism

The findings reported by Hanna Steffenburg and colleagues [1] make for potentially important reading reporting: "In this study of a clinical group of children who were diagnosed with SM [selective mutismand assessed at a center for neurodevelopmental disorders, 63% also met criteria for ASD [autism spectrum disorder]."

Selective mutism (SM) refers to an anxiety disorder typically manifesting during early childhood that affects the use of spoken language in certain social situations such as at school. 'Literally being unable to speak' is a phrase that follows SM in certain contexts, where speech and language skills are not typically affected when and where family or close friends are around. It's not surprising that there is 'overlap' between SM and autism given the characterisation of SM in terms of being "nervous, uneasy or socially awkward" and "stiff, tense or poorly co-ordinated" (minus any sweeping generalisations). And just before you question it, 'poorly-coordinated' is perhaps an under-rated aspect for many people diagnosed as being on the autism spectrum (see here).

Steffenburg and colleagues - including the notable ESSENCE-related name of Christopher Gillberg - sought to examine the possible 'overlap' of SM and autism on the basis that various diagnoses/labels can occur alongside SM; quite a few of them also recognised in relation to autism (see here). Approaching 100 children/young adults diagnosed with selective mutism were assessed at the premier 'autism spectrum conditions' clinic in Gothenberg, Sweden. The clinical assessment undertaken of course covered the diagnosis of autism but also various cognitive functions too.

Almost two-thirds of those with SM who were assessed also met criteria for an autism spectrum disorder (ASD). Added to that: "A further 20% (n=19) had autistic features that were “subclinical”, but, nevertheless, sufficiently marked to have an impact on everyday life." Only 17% were described as having no ASD symptoms. Those are pretty interesting percentages.

Authors also mention how: "The level of cognitive function was average in more than half of the study group but more than one-third of the study group had a borderline IQ or an ID [intellectual disability]." They use such a finding in the context of the ESSENCE term - Early Symptomatic Syndromes Eliciting Neurodevelopmental Clinical Examinations - where overlapping diagnoses/labels is the rule not the exception.

The implications? Well, screen and keep a continual eye open for autism in cases of SM seems to be an important first implication. That also includes keeping in mind those 'subclinical' signs and symptoms, which could be relevant to discussions about the broader autism phenotype (BAP) (see here) and also that curious DSM-5 diagnostic category known as social communication disorder (SCD) (see here). The focus on 'anxiety' in relation to SM might also be important given the pretty well-established connection between autism and anxiety (see here for example) following in the footsteps of some often forgotten autism research history (take a bow Mildred Creak and colleagues for including the term "acute, excessive and seemingly illogical anxiety"). I'm also minded to mention that given the pretty high rate of autism described in SM by Steffenburg and other researchers, further investigations perhaps need to be directed towards shared biology/genetics as well as shared behavioural presentation? Y'know, along the lines of whether 'comorbidity' might be something more 'core' (see here)?

----------

[1] Steffenburg H. et al. Children with autism spectrum disorders and selective mutism. Neuropsychiatr Dis Treat. 2018 May 7;14:1163-1169.

----------

Monday, 21 August 2017

The links between autism and ADHD: sibling study adds a new layer

'A diagnosis of autism or autism spectrum disorder (ASD) does not typically appear in a diagnostic vacuum'. I've said that sentence several times on this blog (see here for example) in line with how science has shown that many different labels (both behavioural and somatic) are over-represented when it comes to a diagnosis of autism. All very ESSENCE like (see here)...

Of the various over-represented comorbidity, attention-deficit hyperactivity disorder (ADHD) - either in symptoms or in diagnosis - is one of the more common ones (see here); something that has implications for screening (see here) and also management. The findings reported by Yi-Ling Chien and colleagues [1] (open-access) add something to the research looking at the possible hows-and-whys of ADHD appearing alongside autism with their focus on "unaffected siblings of probands with autism and Asperger syndrome (AS)." Such work ties into that observing 'unaffected by autism' does not necessarily mean 'symptom or trait-free' in the context of ideas such as the broader autism phenotype (BAP) (see here).

With the aim to "investigate the ADHD-related traits and attention performance in unaffected siblings of probands with autism and Asperger syndrome (AS), as well as the clinical correlates of ADHD-related traits" researchers concluded that generally, unaffected siblings (unaffected by autism) of those diagnosed with an ASD "were more hyperactive/impulsive and oppositional" than those so-called typically developing controls. The finding was based on the use of various questionnaires/schedules pertinent to both the "the core symptoms of DSM-IV ADHD" and also tests to "assess attention performance."

Of particular note was the observation of "more ADHD and oppositional traits in unaffected siblings of AS probands" when looking at subgroups on the autism spectrum. With caution, the authors suggest that such a finding may be evidence "that these traits might be a broader phenotype for AS." They also posit that "more severe ADHD-related symptoms in AS probands rather than autism probands suggest that these two subtypes may not be the same in their clinical expression regarding ADHD symptoms." In these days of plural autisms (see here), things seemingly get even more complicated when diagnostic subgroup x comorbidity is also thrown into the mix.

Although quite a bit more investigation is required in this area, there is at least one important point to take from the Chien work: unaffected siblings of those diagnosed with autism - particularly Asperger syndrome - may benefit from preferential clinical assessment for something like ADHD. I say that with the understanding that a diagnosis of ADHD has been linked to a heightened risk of various 'adverse' outcomes in the longer term (see here and see here) and again, minus any sweeping generalisations, specific interventions for ADHD can seemingly mitigate quite a bit of that excess risk (see here) and onward improve quality of life and more.

----------

[1] Chien Y-L. et al. ADHD-related symptoms and attention profiles in the unaffected siblings of probands with autism spectrum disorder: focus on the subtypes of autism and Asperger’s disorder. Molecular Autism. 2017; 8: 3.

----------

Thursday, 1 September 2016

Autism, optimal outcome and the broader autism phenotype

"Overall, OO [optimal outcome] individuals are not showing BAP [broader autism phenotype] characteristics, but may be subject to other mild ADHD [attention-deficit hyperactivity disorder]-like characteristics."

So said the findings reported by Joyce Suh and colleagues [1] who continue a research voyage based on the examination of a group of children who were very much once on the autism spectrum but no longer meet the diagnostic criteria for the label: those with so-called optimal outcome.

Including the godmother of optimal outcome (OO) research, Deborah Fein, on the authorship list, the Suh paper adds a further level of evidence that 'loss of diagnosis' might actually mean loss of the broader autism characteristics that make up the BAP description too. Looking at a small group of children classified as OO (n=22) and comparing them with a similar number of "high functioning individuals with ASD (HFA)... and typically developing (TD) peers" researchers set about comparing and contrasting the groups when it came to the BAP and also the "Big Five personality traits."

As per the opening sentence, those included in the OO grouping seemed to be free of BAP traits; indeed described as "indistinguishable from TD." Again bearing in mind the relatively small participant numbers included for study, the authors did note a few slight differences when comparing the OO group and those 'typically developing peers' in terms of their use of language and also emotional stability. There may be other avenues for further research based on these topics taking into account how OO might also provide protection against some important psychiatric comorbidity traditionally over-represented when it comes to autism (see here).

But yet again, it appears that OO does seem to denote a group of children who were most definitely on the autism spectrum but who now, for whatever reason(s), seem to be relatively symptom free including those symptoms linked to the broader autism phenotype. The sweeping generalisation that all autism is a lifelong condition takes yet another powerful peer-reviewed research hit.

----------

[1] Suh J. et al. Ratings of Broader Autism Phenotype and Personality Traits in Optimal Outcomes from Autism Spectrum Disorder. J Autism Dev Disord. 2016 Aug 18.

----------

ResearchBlogging.org Suh J, Orinstein A, Barton M, Chen CM, Eigsti IM, Ramirez-Esparza N, & Fein D (2016). Ratings of Broader Autism Phenotype and Personality Traits in Optimal Outcomes from Autism Spectrum Disorder. Journal of autism and developmental disorders PMID: 27538964

Monday, 27 April 2015

When optimal outcome in autism meets ESSENCE

I recently came across the paper by Martina Barnevik Olsson and colleagues [1] (open-access) and their rather interesting take on the issue of optimal outcome and autism (see here for some background on this concept).

Based on the idea that a diagnosis of autism or autism spectrum disorder (ASD) might not be as immutable as perhaps once thought (as in 'no longer meeting the diagnostic criteria for the condition'), Barnevik Olsson et al reported that loss of the autism/ASD label does not necessarily translate into typical developmental service being resumed. Indeed, that the concept of ESSENCE (Early Symptomatic Syndromes Eliciting Neurodevelopmental Clinical Examinations) or autism+ if you prefer, might still influence clinical presentation and the subsequent continued "need of support, educationally, from a neurodevelopmental and a medical point of view."

Following 17 children originally diagnosed with ASD who "recovered from autism" after behavioural intervention, researchers took various 'readings' at follow-up points covering "the child’s daily functioning, school situation, and need of support." Alongside a parental interview, authors also used the Vineland Adaptive Behavior Scales (VABS) and the "Autism – Tics, Attention-deficit/hyperactivity disorder (AD/HD), and other Comorbidities (A-TAC) telephone interview" to see whether loss of the ASD label meant 'symptom-free'.

Results, and a long quote coming up:

"At the new follow-up around age 10 years, all the children had major behavioral and/or academic problems. Of the 13 children with social interaction problems in the semistructured parental interview, 12 also had repeated tantrums, nine had difficulties with hyperactivity or impulsivity, and two with passivity. Eleven of the children had difficulties concentrating, and ten had speech problems. Hence, it was evident that a majority of the children had problems in several different domains." The authors note that many of these presented symptoms fall under the umbrella term of ESSENCE. Further, that of the 14 children who's parents were available for the A-TAC interview, three of them were again considered to meet the criteria for ASD and "another six had pronounced subthreshold ASD symptoms."

Hopefully without the 'I told you so' attitude coming out to much, I have covered the issue of optimal outcome not necessarily translating into 'symptom-free' before on this blog (see here). Once again, I'm not trying to reverse my excitement about the original results from Deborah Fein and colleagues [2] but rather pushing the idea that autism is very often much more than the sum of the triad/dyad of characteristics which we use (see here). Further research from Fein and colleagues [3] has also hinted that functioning outside of the label of autism does not necessarily translate into a complete loss of certain issues too as has data from other groups.

Fluidity in the presentation of autistic traits is still something of real interest to autism research including that reaching into adulthood (see here). The Barnevik Olsson results add to that interest, incorporating the idea that quite a bit of the heightened comorbidity potentially present alongside a diagnosis of ASD may very well have some pretty significant effects on a person in terms of daily functioning and onwards issues affecting quality of life [4]. In policy terms, what this means is that just because a child (or adult) drops off the autism spectrum symptom threshold wise, may not necessarily translate into no additional help and support being required. Indeed, as per the increasing interest in the DSM-5 criteria change for autism (see here) and the rise and rise of labels such as social communication disorder (SCD) one wonders how many optimal outcomers will merely fall out of the autism/ASD label and into the SCD category?

Music: Seasick Steve - Summertime Boy.

----------

[1] Barnevik Olsson M. et al. “Recovery” from the diagnosis of autism – and then?  Neuropsychiatric Disease and Treatment. 2015. 11: 999-1005.

[2] Fein D. et al. Optimal outcome in individuals with a history of autism. J Child Psychol Psychiatry. 2013 Feb;54(2):195-205.

[3] Orinstein AJ. et al. Social Function and Communication in Optimal Outcome Children and Adolescents with an Autism History on Structured Test Measures. J Autism Dev Disord. 2015 Mar 11.

[4] Gotham K. et al. Depressive and anxiety symptom trajectories from school age through young adulthood in samples with autism spectrum disorder and developmental delay. J Am Acad Child Adolesc Psychiatry. 2015 May;54(5):369-376.e3.

----------

ResearchBlogging.org Barnevik Olsson, M., Westerlund, J., Lundström, S., Giacobini, M., Fernell, E., & Gillberg, C. (2015). “Recovery” from the diagnosis of autism – and then? Neuropsychiatric Disease and Treatment DOI: 10.2147/NDT.S78707

Friday, 24 April 2015

DSM-5 impacting on autism numbers

"Consistent with previous reviews, the majority of included studies indicated between 50 and 75 % of individuals will maintain diagnoses."

That was one of the conclusions reached by Isaac Smith and colleagues [1] following their systematic review of studies comparing DSM-IV and DSM-5 criteria for autism spectrum disorder (ASD) and what the changes mean for eligibility for the label.

Authors further reported that: "the greatest decreases [were] among high-functioning populations with IQs over 70 and/or previous diagnoses of PDD-NOS or Asperger's disorder" when it came to those not fitting the latest autism description in DSM.

I've got little more to say on this topic over what has been discussed previously on this blog with DSM-5 in mind (see here). The newly appointed catch-all category of social communication disorder (SCD) remains a label to watch, not just with respect to how many people will be diagnosed and what level of services/support will be offered, but also with the idea that the broader autism phenotype (BAP) might also gain some clinical recognition.

Music: Nirvana - Drain You.

----------

[1] Smith IC. et al. The Effects of DSM-5 Criteria on Number of Individuals Diagnosed with Autism Spectrum Disorder: A Systematic Review. J Autism Dev Disord. 2015 Mar 22.

----------
ResearchBlogging.org Smith IC, Reichow B, & Volkmar FR (2015). The Effects of DSM-5 Criteria on Number of Individuals Diagnosed with Autism Spectrum Disorder: A Systematic Review. Journal of autism and developmental disorders PMID: 25796195

Wednesday, 11 March 2015

Intimate partner abuse and risk of offspring autism

I want to be slightly careful when discussing the conclusion reached in the paper by Andrea Roberts and colleagues [1] that: "autism spectrum disorder risk was increased in children of women who reported fear of partner or sexual, emotional, or physical abuse in the 2 years before the birth year."

Careful not only because correlation has an uncanny habit of being translated into causation for some people (they are not one and the same thing) and how this combines when one interprets the concept of 'risk', but also because the results potentially, yet again, increase the likelihood of stigmatising parents of children with autism. Refrigerator mums turning into domestic violence dads is a headline that I don't think anyone wants to see with autism in mind...

That being said, I don't want to downplay the findings from Roberts et al particularly given that this is not the first time that this team have reported results in this area [2] (open-access). On that previous occasion as on this, the implication was that past events that produce serious psychological (as well as physical) harm might have an "intergenerational" effect. Indeed, even more research from this group has hinted that maternal posttraumatic stress disorder (PTSD) might also affect offspring autism risk [3]. That is alongside the uncomfortable fact that having a child with autism seemingly does not protect mothers (or fathers) from being in abusive relationships.

The most recent study "calculated risk ratios for autism spectrum disorder associated with abuse in a population-based cohort of women and their children (54,512 controls, 451 cases)". They found that offspring risk of a diagnosis of autism spectrum disorder (ASD) was elevated for those mothers reporting "fear of partner or sexual, emotional, or physical abuse" sometime in the 2 years before the birth of their child, taking into account several other possible confounding variables. Interestingly, the risk of autism was not significantly elevated when it came to descriptions of "Physical harm from abuse during pregnancy" potentially indicating that any effect might be 'active' before conception.

This work potentially intersects with other research describing, for example, how parental experiences of trauma might have an intergenerational effect on future offspring. The paper by Duad and colleagues [4] suggesting that: "the children of tortured parents had more symptoms of anxiety, depression, post-traumatic stress, attention deficits and behavioural disorders" is not necessarily a direct comparator to the Roberts results but does provide a template for how parental experiences might have the ability to influence offspring outcomes. You could well suggest that the experiences of torture might have an effect on factors such as parenting style which could subsequently impact on offspring outcomes, but again it's difficult to prove causation. I might add that the Duad results focusing on "immigrant children whose parents have been tortured before coming to Sweden" may well also link in with other findings with an autism research slant (see here).

As to the mechanisms and without falling into any psychobabble explanations, I'm tempted to suggest that there may be quite a few areas requiring further investigation. Reiterating that correlation is not the same as causation and accepting that there may be as many different routes to a diagnosis of autism as there are 'autisms' [plural], I'm drawn to parallel these findings with other examples. I've mentioned the Dutch Hongerwinter before on this blog (see here) and how early nutrition might very well have an effect on later life health and wellbeing. Extending such effects to offspring of those subjected to the famine of 1944 (which also coincided with an unusually harsh winter) there is some evidence of a transgenerational effect for offspring in terms of the greater risk for being diagnosed with schizophrenia for example [5]. I'm not necessarily saying that abuse is the same as starvation; merely that there may be similar biological mechanisms at work in terms of their respective effects on stress and also the concept of resilience. This area of work also introduces the idea that epigenetics might play some kind of role in potentially 'programming' offspring development for something like autism. Just in case this might seem a little outlandish, I might refer you to some work coming from Project Ice Storm [6] and how DNA methylation patterns *might* be tied into maternal 'appraisal' [7].

In a previous post on this blog, I've also covered some interesting work suggesting that trauma and PTSD *might* elevate the risk of autoimmune disorders (see here). I know that again we have a 'correlation not necessarily being the same as causation' state of affairs in discussing such a possible link, but given the rising tide of research suggesting that there may be something more to see when it comes to autoimmunity and [some] autism (see here) with speculation a-plenty (see here) I wonder whether some additional questioning about autoimmune disorders appearing in medical records or more direct evidence of autoimmune biology might be indicated in further work in this area? I say this accepting that the process of autoimmunity still has the ability to invoke head-scratching (see here).

That being said, there are caveats to all this. The variables which did not seem to account for the recent Roberts results - "gestation length, birth weight, maternal smoking or alcohol consumption during pregnancy, gestational diabetes, preeclampsia, or history of induced abortion" - cannot and do not cover the multitude of other confounding variables that might affect risk. Familial predisposition to autism as per the broader autism phenotype (BAP) perhaps also needs some further inspection, accepting my slightly furrowed brow when it comes to the BAP being tied into something like postpartum depression for example (see here). I would however, like to know a little bit more about other potential psychopathology / psychiatric diagnoses of parents and whether this might affect risk of autism outside of the history of exposure to abuse. Again, not to generalise or stigmatise, I'll link to some of the work on schizophrenia and violence [8] with some further analysis (see here) for example, and some suggestion that certain parental psychiatric diagnoses might elevate the risk of offspring autism [9].

Finally, I want to end with a line or two about the societal implications to come from the Roberts results. Abuse comes in many forms and is unfortunately an all-too-common occurrence these days (see here). Aside from the suggestion of a link with offspring behavioural and developmental outcomes, I'd be minded to suggest that we really should be doing a lot more to reduce the numbers of those suffering such acts and dedicate further resources to helping those who have been abused to try and mitigate not just the potential intergenerational effect but what such events might mean for them as individuals also [10].

----------

[1] Roberts AL. et al. Maternal exposure to intimate partner abuse before birth is associated with autism spectrum disorder in offspring. Autism. 2015 Feb 6. pii: 1362361314566049.

[2] Roberts AL. et al. Association of maternal exposure to childhood abuse with elevated risk for autism in offspring. JAMA Psychiatry. 2013 May;70(5):508-15.

[3] Roberts AL. et al. Women's posttraumatic stress symptoms and autism spectrum disorder in their children. Res Autism Spectr Disord. 2014 Jun 1;8(6):608-616.

[4] Daud A. et al. Children in families of torture victims: transgenerational transmission of parents’ traumatic experiences to their children. International Journal of Social Welfare. 2005; 14: 23-32.

[5] Susser ES. & Lin SP. Schizophrenia after prenatal exposure to the Dutch Hunger Winter of 1944-1945. Arch Gen Psychiatry. 1992 Dec;49(12):983-8.

[6] Walder DJ. et al. Prenatal maternal stress predicts autism traits in 6½ year-old children: Project Ice Storm. Psychiatry Research. 2014; 219: 353-360.

[7] Cao-Lei L. et al. Pregnant women’s cognitive appraisal of a natural disaster affects DNA methylation in their children 13 years later: Project Ice Storm. Translational Psychiatry. 2015. Feb 24.

[8] Fleischman A. et al. Schizophrenia and violent crime: a population-based study. Psychol Med. 2014 Oct;44(14):3051-7.

[9] Daniels JL. et al. Parental psychiatric disorders associated with autism spectrum disorders in the offspring. Pediatrics. 2008 May;121(5):e1357-62.

[10] Dube SR. et al. Childhood abuse, household dysfunction, and the risk of attempted suicide throughout the life span: findings from the Adverse Childhood Experiences Study. JAMA. 2001 Dec 26;286(24):3089-96.

----------

ResearchBlogging.org Roberts AL, Lyall K, Rich-Edwards JW, Ascherio A, & Weisskopf MG (2015). Maternal exposure to intimate partner abuse before birth is associated with autism spectrum disorder in offspring. Autism : the international journal of research and practice PMID: 25662292

Thursday, 5 March 2015

Autism, heritability and 'proof of principle' genomic biomarkers

JAMA Psychiatry published a number of interesting articles recently, some of which have grabbed media headlines. "Autism is largely down to genes, twin study suggests" went the BBC headline covering the paper by Emma Colvert and colleagues [1] who, based on an analysis of twin pairs as part of TEDS (Twins Early Development Study), concluded that: "The liability to ASD [autism spectrum disorder] and a more broadly defined high-level autism trait phenotype in this large population-based twin sample derives primarily from additive genetic and, to a lesser extent, nonshared environmental effects." 

The paper from Tiziano Pramparo and colleagues [2] has so far garnered rather less media attention with their "proof-of-principle study" suggesting that "genomic biomarkers with very good sensitivity and specificity for boys with ASD in general pediatric settings can be identified." Said results were based on examination of "leukocyte RNA expression levels" and found some interesting differences between children diagnosed with autism vs. asymptomatic controls including functions relevant to the immune system and inflammatory processes among other things. Go figure.

The Colvert paper covers one of the more heated debates when it comes to autism: the relative contributions of genetics vs. environment to autism. I've covered this issues quite a bit on this blog, perhaps most recently when discussing the paper from Sven Sandin and colleagues [3] and their results leading to press releases stating that: "Environment as important as genes in autism, study finds." The Colvert results seem to have something slightly different to say, following a well trodden path in autism research of results and counter-results swinging pendulum style (see here).

I don't want to trawl over every detail of the Colvert study but it strikes me that there are a few important things to say about the findings within the context of both genes vs. environment and also the growing move towards the plural 'autisms'. First, is their reliance on looking at twin pairs and in particular, some who were monozygotic (MZ) twins and others who were dizygotic (DZ) combined with an analysis of assessed autistic traits in said twins. In effect, authors were comparing twin pairs - MZ vs. DZ - for how well they matched in autism symptoms terms as a function of their degree of genetic similarity. They didn't actually look at the genes potentially involved in autism in this study, which as we have found out from the paper by Ryan Yuen and colleagues [4], are likely to be pretty complex and containing "substantial genetic heterogeneity" even within sibling pairs (see here for my take on this). And yes, I know 'siblings' are not necessarily the same as 'twins'...

There are also some implicit statements in the study of twins. We assume that they are genetically identical (at least MZ twins). Unfortunately, more and more science is realising that sharing the same genes is not necessarily the same as sharing the same gene functions. One word: epigenetics, and as we've seen even with autism in mind, how issues such as DNA methylation mean twins (identical twins) are not necessarily as identical as you might imagine (see here) and how this might explain at least some of the missing heritability noted in such studies. The value-added bit to the study by Chloe Wong and colleagues [5] looking at the methylome with autism in mind was that they too relied on data from TEDS.

"The novel aspect of this study was the inclusion of twins regardless of whether they had a clinical diagnosis. This enabled us to get a more accurate picture of how influential a child’s environmental experiences and their genetic makeup is on ASD, as well as on subtler expressions of autistic skills and behaviours." A quote from one of the study authors also gives us something to ponder. I assume the 'subtler expressions' means the broader autism phenotype (BAP) and the idea that crossing the diagnostic threshold of autism (or ASD) means crossing a blurred barrier where the traits of autism are also present in milder, less pathological forms not necessarily meeting the diagnostic criteria that we've assigned for the condition. Whilst this is a strength of the Colvert paper over other research in this area, it does rather mean that the spotlight is on the 'trait phenotype' of autism. And 'fractionable' autistic traits have been a focus of other research by some of the authors [6] on the Colvert paper.

I'd also like to think that although the Colvert results are important from the point of view that there are potentially shared genes (or even shared epigenomic issues) at work when it comes to autism / autistic traits, this does not mean that such genes are on their own 'causative' of autism. "Some parents are concerned whether things like high pollution might be causing autism” is another quote from another of the study authors who seems to be downplaying the possibility that such environmental factors might play some hand in some autism. I'm similarly guarded about the idea that something like air pollution might 'correlate' with some autism but as we've discovered over recent years, one doesn't talk about environment without also mentioning the idea of genetic 'fragility' to certain environmental issues (see here) based on the preliminary findings from Heather Volk and colleagues [7] for example. That also genes which might predispose to autism may also predispose to other conditions/states as per the Pramparo paper talking about immune function and inflammatory processes is also worth reiterating.

I guess what I'm trying to say is that of course genes are going to be involved in autism. Even those cases of autism where onset is linked to something like infection (see here and see here) or has a regressive element to it (see here), there has to be some genetic involvement. Genes however, don't typically act in isolation from either maturation or the environment they find themselves in. They're dynamic, switching on and off in various tissues in response to all-manner of different variables. Structural genetics, that is looking for the presence of mutations or different variants, is still important to autism research (as per the BCKDK gene work) of that there is no doubt, although even there the processes dictating mutation are likely to be complex. But within the wide - very wide - spectrum included under the diagnosis of autism, I'd be inclined to suggest that science shouldn't yet be ready to give up the idea that environment (however this is interpreted) might yet hold some important clues about some autism...

----------

[1] Colvert E. et al. Heritability of Autism Spectrum Disorder in a UK Population-Based Twin Sample. JAMA Psychiatry. 2015 Mar 4.

[2] Pramparo T. et al. Prediction of Autism by Translation and Immune/Inflammation Coexpressed Genes in Toddlers From Pediatric Community Practices. JAMA Psychiatry. 2015 Mar 4.

[3] Sandin S. et al. The familial risk of autism. JAMA. 2014 May 7;311(17):1770-7.

[4] Yuen RK. et al. Whole-genome sequencing of quartet families with autism spectrum disorder. Nat Med. 2015 Feb;21(2):185-91.

[5] Wong CC. et al. Methylomic analysis of monozygotic twins discordant for autism spectrum disorder and related behavioural traits. Mol Psychiatry. 2014 Apr;19(4):495-503.

[6] Brunsdon VE. & Happé F. Exploring the 'fractionation' of autism at the cognitive level. Autism. 2014 Jan;18(1):17-30.

[7] Volk HE. et al. Autism spectrum disorder: interaction of air pollution with the MET receptor tyrosine kinase gene. Epidemiology. 2014 Jan;25(1):44-7.

----------

ResearchBlogging.org Colvert, E., Tick, B., McEwen, F., Stewart, C., Curran, S., Woodhouse, E., Gillan, N., Hallett, V., Lietz, S., Garnett, T., Ronald, A., Plomin, R., Rijsdijk, F., Happé, F., & Bolton, P. (2015). Heritability of Autism Spectrum Disorder in a UK Population-Based Twin Sample JAMA Psychiatry DOI: 10.1001/jamapsychiatry.2014.3028




ResearchBlogging.org Pramparo, T., Pierce, K., Lombardo, M., Carter Barnes, C., Marinero, S., Ahrens-Barbeau, C., Murray, S., Lopez, L., Xu, R., & Courchesne, E. (2015). Prediction of Autism by Translation and Immune/Inflammation Coexpressed Genes in Toddlers From Pediatric Community Practices JAMA Psychiatry DOI: 10.1001/jamapsychiatry.2014.3008

Friday, 24 October 2014

Autism, siblings and DSM-5 Social Communication Disorder

A quick post to bring to your attention the paper by Meghan Miller and colleagues [1] who concluded that: "Pragmatic language problems are present in some siblings of children with ASD [autism spectrum disorder] as early as 36 months of age". Further: "As the new DSM-5 diagnosis of Social (Pragmatic) Communication Disorder (SCD) is thought to occur more frequently in family members of individuals with ASD, it is possible that some of these siblings will meet criteria for SCD as they get older".
Isn't this a school day?

The DSM-5, as many in the autism community will already know, has been the source of quite a bit of discussion/argument as to how it has started to re-define what we label as autism or autism spectrum disorder. The initial signs have been that use of the DSM-5 criteria does indeed impact on the numbers of cases of autism (see here) and in particular, that the category termed 'Social Communication Disorder' (SCD) is filling up with those who might present with social communication issues without the repetitive or restricted behaviours required to fulfil the ASD label. Whether this implies the same levels of services and resources will be available to those with SCD as it is supposed to for those with ASD remains to be seen.

I did wonder whether the Miller findings were an important indication (although not the first [2]) that science might also be putting a bit more flesh on to the bones of the concept of a broader autism phenotype (BAP). Describing the subtle speech and language and social interactive issues described on the diagnostic borderlands of autism [3], it strikes me that there is more than a smidgen of overlap between SCD and the BAP (at least with more strength of data than the suggestion of a link between the BAP and postnatal depression). With cautions down the years about assuming "all children with pragmatic difficulties have autism" [4], does the advent of the SCD diagnostic category offer a viable alternative?

Music to close, and the sheer brilliance of Morrissey (live). And for those who might want to know a little more about the man behind the music: The Importance Of Being Morrissey.

----------

[1] Miller M. et al. Early pragmatic language difficulties in siblings of children with autism: implications for DSM-5 social communication disorder? J Child Psychol Psychiatry. 2014 Oct 15.

[2] Botting N. & Conti-Ramsden G. Pragmatic Language Impairment without Autism. Autism. 1999; 3: 371-396

[3] Dawson G. et al. Defining the broader phenotype of autism: genetic, brain, and behavioral perspectives. Dev Psychopathol. 2002 Summer;14(3):581-611.

[4] Bishop DV. & Norbury C. Exploring the borderlands of autistic disorder and specific language impairment: a study using standardised diagnostic instruments.  Journal of Child Psychology and Psychiatry. 2002; 43: 917–929. doi: 10.1111/1469-7610.00114

----------

ResearchBlogging.org Miller M, Young GS, Hutman T, Johnson S, Schwichtenberg AJ, & Ozonoff S (2014). Early pragmatic language difficulties in siblings of children with autism: implications for DSM-5 social communication disorder? Journal of child psychology and psychiatry, and allied disciplines PMID: 25315782

Thursday, 23 October 2014

Postpartum depression and the broader autism phenotype?

"The findings suggest that pregnant women with BAP [broader autism phenotype] have an elevated risk for PPD [postpartum depression]".

That was the conclusion reached by Ryosuke Asano and colleagues [1] based on their analysis of data derived from the Hamamatsu Birth Cohort (HBC) Study [2]. The idea being that the more subtle presentation of issues linked to a diagnosis of autism spectrum disorder (the BAP) might predispose to a great likelihood of other behavioural or psychiatric symptoms [3] to be present. We'll see about that.
What're you lookin' at, ya hockey puck?

The Asano paper is open-access but just in case...

  • As part of the HBC study looking at pregnant women to ascertain "an early diagnostic algorithm for [offspring] ASD" [2] researchers garnered various snippets of information from over 800 pregnant women in mainland Japan.
  • Covering mid-pregnancy to approximately 3 months after childbirth, women were asked to complete the Edinburgh Postnatal Depression Scale (EPDS) (a tool fairly routinely used here in the UK) to "measure their depressive symptoms after childbirth". The EPDS was completed 3 times after childbirth (between 2-4 weeks, 5-7 weeks and 8-12 weeks).
  • The BAP was assessed using the Broader Phenotype Autism Symptoms Scale (BPASS) [4] and administered via interview "mainly during the 2nd trimester of the pregnancy". Authors also did some additional work to "check whether our use of the BPASS is reliable and valid". Potential confounders such as a history of depression or anxiety and the level of emotional support provided by partners during pregnancy were also examined in participants; indeed, some 11% of the research cohort "had a history of depression and/or anxiety disorders".
  • Results: "The overall cumulative incidence of PPD was 15.2%". This figure is not a million miles away from other estimates of PPD [4] based on the use of the EPDS (albeit with a slightly different cut-off point). Indeed, the HBC study had already hinted at something around this figure previously [5].
  • Scores on the BAP were "weakly but positively associated with depressive symptoms after childbirth at all measurement periods". I have to say that despite these various correlations being significant, I was not particularly impressed with the correlation (r) values reported (ranging from 0.14 to 0.16 assuming 0 is no correlation and 1 is a perfect correlation). Indeed, when looking at the mean (average) composite score of the BPASS (see Table 1) between the PPD and non-PPD groups you can see there is very little difference in measured BAP (13.77 vs. 13.14).
  • Again, based on the data provided in Table 1, of more interest is the effect of a history of depression/anxiety on PPD status, where 30/128 (23%) and 65/713 (9%) of the PPD and non-PPD groups respectively reported. The authors note that a: "history of depression and/or anxiety disorders was associated with a more than 3-fold increase in the risk of PPD".

With all due respect to the authors, I have to say that I'm not convinced that scoring high on the BAP is truly a major risk factor for postpartum depression. I'm not totally ruling out any relationship as per the Ingersoll findings on the BAP and depressed mood [3] or based on the increasing body of work looking at autism and subsequent mood disorders (see here for example). It's just that there are far more likely predictors/predisposers to PPD than subclinical autistic traits. Indeed, yet another paper from the HBC study [6] further hinted at some of those other factors based on that history of depression/anxiety among other things.

Music then... You've got the love (Florence + The Machine version).

----------

[1] Asano R. et al. Broader autism phenotype as a risk factor for postpartum depression: Hamamatsu Birth Cohort (HBC) Study. Research in Autism Spectrum Disorders. 2014; 8: 1672–1678.

[2] Tsuchiya KJ. et al. Searching for very early precursors of autism spectrum disorders: the Hamamatsu Birth Cohort for Mothers and Children (HBC). Journal of Developmental Origins of Health and Disease. 2010; 1: 158-173.

[3] Ingersoll B. et al. Increased rates of depressed mood in mothers of children with ASD associated with the presence of the broader autism phenotype. Autism Res. 2011 Apr;4(2):143-8.

[4] Verreault N. et al. Rates and risk factors associated with depressive symptoms during pregnancy and with postpartum onset. J Psychosom Obstet Gynaecol. 2014 Sep;35(3):84-91.

[5] Matsumoto K. et al. Age-specific 3-month cumulative incidence of postpartum depression: the Hamamatsu Birth Cohort (HBC) Study. J Affect Disord. 2011 Oct;133(3):607-10.

[6] Mori T. et al. Psychosocial risk factors for postpartum depression and their relation to timing of onset: the Hamamatsu Birth Cohort (HBC) Study. J Affect Disord. 2011 Dec;135(1-3):341-6.

----------

ResearchBlogging.org Asano, R., Tsuchiya, K., Takei, N., Harada, T., Kugizaki, Y., Nakahara, R., Nakayasu, C., Okumura, A., Suzuki, Y., Takagai, S., & Mori, N. (2014). Broader autism phenotype as a risk factor for postpartum depression: Hamamatsu Birth Cohort (HBC) Study Research in Autism Spectrum Disorders, 8 (12), 1672-1678 DOI: 10.1016/j.rasd.2014.08.010

Monday, 7 July 2014

Reproductive stoppage related to autism

The paper by Thomas Hoffmann and colleagues [1] on reproductive stoppage - the decision to not have more children - in couples with a child already diagnosed with an autism spectrum disorder (ASD) is the source for today's post. This is both an important and delicate area to talk about so I tread very carefully in my discussions.
The Holy Infants @ Wikipedia 

A few details first:

  • Based on records held at the California Department of Developmental Services, children born between 1990 and 2003 with a subsequent diagnosis of ASD were identified, and details on full and half-siblings extracted.
  • Data from control participants without any record of autism or ASD were compared to ascertain "the reproductive behaviors of parents after the birth of a child with ASD vs an unaffected child".
  • Results: 19 710 "case families" were initially identified from Services records and compared against data from 36 215 "pure control families". Whilst for the first few years after the birth of a child who was subsequently diagnosed with an ASD case families showed reproductive behaviour "similar to that of control parents", as time went on reproductive stoppage became more pronounced. Families with a child with autism were about a third less likely to have subsequent children than control families. This effect was also noted when later-born children were diagnosed with an ASD and "among women who changed partners".

Although the precise reasons why reproductive stoppage occurred with greater frequency among families affected by ASD are not given in the Hoffmann paper, some of the associated media discussion of this study (see here) talk about possible influences. It "could be due to concerns about having another child with the disorder or that parents feel they are unable to care for additional children after having one on the spectrum already" are some of the ideas being suggested. Parental stress is another concept banded around by some too.

Having talked about recurrence risk and autism previously on this blog (see here), there is another important message to be taken from the Hoffmann study outside of reproductive behaviours in families with a child with ASD. The issue of stoppage can have an important effect on discussions about recurrence risk as per other reports on this topic [2] and as has been suggested in the latest paper, how recurrence risk estimates can be under-estimated as a result. Indeed, the authors reported that when taking stoppage into account, recurrence risk estimates move up a few percentage points for both full and half siblings (8% full siblings becomes 10% and 3% for half-siblings becomes ~5%) based on their data. I might add that birth order studies in connection to ASD may also be similarly influenced by stoppage too [3].

I was also taken by some discussion on a paradox as a function of the Hoffmann results. The idea being that if autism was wholly genetic, then such reproductive stoppage should be "diminishing" any classical genetic fragility to autism over time. Clearly however, this is not the case as rates of autism, estimated rates of autism, are still climbing and much greater focus is being directed to other factors in autism causation outside of the 'genes are king/queen' mantra. Interestingly, published in the same journal as the Hoffmann paper, another paper by Kristen Lyall and colleagues [4] perhaps provides some further discussion on this topic and their conclusions supporting a: "role of additive genetic influences in concentrating inherited ASD susceptibility in successive generations and the potential role of preferential mating, and suggest that typical variation in parental social functioning can produce clinically significant differences in offspring social traits". I might add that I'm not necessarily coming down on the side of assortative mating being the ultimate factor affecting offspring autism risk, but it might offer at least some explanation for the autism genetics paradox also tied into concepts like the broader autism phenotype (BAP) too.

As mentioned at the beginning of this post, the issue of reproductive stoppage when it comes to families touched by autism is both an important and sensitive issue. The decision or not to have additional children when a family is already affected by autism is a personal one and most likely influenced by many different and often very individual factors. I don't doubt that some of those factors are the same that every family faces irrespective of autism or not: time, space, money, etc. but perhaps with the added discussions about 'risk' and the various 'what if' scenarios...

Music to close, and another song doin' the rounds in our house: Let it go (from Disney's Frozen movie). A treat also for some of my brood for bringing home their first Martial Arts trophies... Kiai!

----------

[1] Hoffmann TJ. et al. Evidence of Reproductive Stoppage in Families With Autism Spectrum Disorder. JAMA Psychiatry. 2014. June 18.

[2] Jones MB. & Szatmari P. Stoppage rules and genetic studies of autism. J Autism Dev Disord. 1988 Mar;18(1):31-40.

[3] Schmidt K. et al. Brief report: Asperger's syndrome and sibling birth order. J Autism Dev Disord. 2013 Apr;43(4):973-7.

[4] Lyall K. et al. Parental Social Responsiveness and Risk of Autism Spectrum Disorder in Offspring. JAMA Psychiatry. 2014. June 18.

----------

ResearchBlogging.org Hoffmann, T., Windham, G., Anderson, M., Croen, L., Grether, J., & Risch, N. (2014). Evidence of Reproductive Stoppage in Families With Autism Spectrum Disorder JAMA Psychiatry DOI: 10.1001/jamapsychiatry.2014.420