Saturday, 24 January 2015

Hartnup disease in coeliac disease: lessons for 'some' autism?

The paper by Thomas Ciecierega and colleagues [1] (open-access) talking about 'refractory' coeliac disease (CD) - a lack of, or diminished response to a gluten-free diet (the primary management option for CD) - and the subsequent diagnosis of Hartnup disease in a young girl is fodder for today's brief post.
I already had a big bowl of curly-toed weirdo for breakfast.

Describing how authors first diagnosed her with CD but witnessed "only mild clinical and laboratory improvement" following a regime of implementing a gluten-free diet and supplementation with various other nutrients via Total Parenteral Nutrition among other things, further examinations led to a suspicion of a niacin deficiency. The quite remarkable turn-around in clinical fortunes witnessed following the use of "oral niacin (50 mg three times daily)" led to the final diagnosis of Hartnup disease. This was confirmed by some bog-standard chromatography of a urine specimen which "showed increased levels of excreted neutral amino acids (glutamine, valine, phenylalanine, leucine, asparagine, citrulline, isoleucine, threonine, alanine, serine, histidine, tyrosine, tryptophan)." The authors conclude: "Co-occurrence of Hartnup disease and CD is extremely rare." I'd be minded to say, rare yes, but not unheard of in the peer-reviewed domain [2].

This case report stuck out to me for a few reasons. Coeliac disease and the broader spectrum of non-coeliac gluten sensitivity (NCGS) or non-coeliac wheat sensitivity if you wish, are quite a regular feature on this blog; even more so with the news that rates of CD are increasing [3]. Treatment of said 'gluten spectrum conditions' involves the use of a diet devoid of gluten which is found in various cereal products. Said diet also seemingly overlapping with other areas/conditions outside of CD including autism (see here). This is not however, the first time that a gluten-free diet has been talked about as not cutting the mustard in cases of something that initially looked like typical CD (see here).

Hartnup disease is something I came across quite early on in my autism research career. One of the compounds that I had some interest in called trans-indolyl-acryloylglycine (IAG) (see here) was thought to be derived from that ever so versatile aromatic amino acid called tryptophan. Whilst IAG turned out not to be the 'autism biomarker' that we initially thought it might be, one of the other clinical occasions that this compound cropped up in was, yes you guessed it, Hartnup disease. Hartnup disease and tryptophan have an interesting association [4].

Although not wishing to make connections where none may exist, the presentation of Hartnup disease might also manifest in behaviour as well as the more typical skin symptoms which can present [5]. I stumbled across an interesting BBC news article on the condition that mentions Hartnup disease in the same breath as 'the symptoms of autism' which, although rare, is something I've often thought merits further research attention. I'm not necessarily saying that autism = refractory coeliac disease = Hartnup disease - don't be silly - but it strikes me that there may be more to see in connecting some individual cases based on some biological overlap...

So: Paolo Nutini with Candy.


[1] Ciecierega T. et al. Severe persistent unremitting dermatitis, chronic diarrhea and hypoalbuminemia in a child; Hartnup disease in setting of celiac disease. BMC Pediatrics 2014, 14:311 .

[2] Coudray-Lucas C. et al. Association of celiac disease and Hartnup's disease? Value of the tryptophan loading test. Gastroenterol Clin Biol. 1986 Feb;10(2):187-8.

[3] Zingone F. et al. Socioeconomic variation in the incidence of childhood coeliac disease in the UK. Arch Dis Child. 2015. 22 Jan.

[4] Milovanović DD. A clinicobiochemical study of tryptophan and other plasma and urinary amino acids in the family with Hartnup disease. Adv Exp Med Biol. 2003;527:325-35.

[5] Patel AB. & Prabhu AS. Hartnup disease. Indian J Dermatol. 2008 Jan;53(1):31-2.

---------- Ciecierega, T., Dweikat, I., Awar, M., Shahrour, M., Libdeh, B., & Sultan, M. (2014). Severe persistent unremitting dermatitis, chronic diarrhea and hypoalbuminemia in a child; Hartnup disease in setting of celiac disease BMC Pediatrics, 14 (1) DOI: 10.1186/s12887-014-0311-6

Friday, 23 January 2015

NAC + risperidone = decreased irritability in autism?

It's been a while since I talked about NAC - N-acetylcysteine - on this blog with either autism or schizophrenia in mind (see here and see here respectively). Today I'm going to remedy that situation by bringing the paper by Nikoo and colleagues [1] to your attention, and their observation: "N-acetylcysteine can be considered as an adjuvant therapy for ADs [autistic disorders] with beneficial therapeutic outcomes." Adjuvant therapy by the way, refers to a sort of add-on therapy.
We have to call him, Havok. That's his name now.

Just in case you don't know, NAC among other things is the treatment of choice when it comes to paracetamol (acetaminophen) overdose through it's very important role in the formation of the glutathione (the big 'G' as I should start to call it). Glutathione already has something of a research interest when it comes to autism (see here); more recently increased following papers such as the one by Rahbar and colleagues [2] taking about some of the genetics of the glutathione system with [some] autism in mind, touched upon in a recent post.

Nikoo et al reported results based on a gold-standard randomised, double-blind trial whereby one group of children/adolescents with autism received the antipsychotic risperidone plus NAC and another group received risperidone plus placebo over the course of 10 weeks. Risperidone, as I just mentioned is an antipsychotic medicine which has some interesting history when it comes to [some] autism (see here). Irritability was the focus of the study, and what happened to scores on the "Aberrant Behavior Checklist-Community (ABC-C) Irritability subscale" at baseline (start), 5 weeks and 10 weeks. 

The results suggested that NAC may well have some value as an add-on treatment when it came to scores of irritability in cases of autism as per the authors findings: "By week 10, the NAC group showed significantly more reduction in irritability (P = 0.02) and hyperactivity/noncompliance (P = 0.01) subscales scores."

This is not the first time that NAC + risperidone has been mentioned in the peer-reviewed autism research literature. The paper by Ghanizadeh & Moghimi-Sarani [3] (open-access) also reported significant positive effects albeit alongside a few adverse events such as: "constipation (16.1%), increased appetite (16.1%), fatigue (12.9%), nervousness (12.9%), and daytime drowsiness (12.9%)." This follows other research out of Iran looking at NAC + risperidone in relation to some of the negative symptoms of schizophrenia [4]. On all these research occasions, the experimental period of observation was relatively short (8-10 weeks).

Like many others, I'm always a tad reserved when it comes to the use of antipsychotics for cases/behaviours of/associated with autism. As per my recent discussions on weight gain and such pharmaceutics (see here), one always needs to be a little cautious about the use of such medicines and the application of good medicines management including continual health monitoring as a priority when used. The guidance from NICE here in Blighty advising that such medicines should not be used to manage the core symptoms of autism (see here) is testament to the research base on their effectiveness and their limited place in any management plan. That being said, such pharmaceutics do have a role for some people on the autism spectrum [5] even only if as a 'last resort' in the short-term.

I end by harking back to the paper by Hardan and colleagues [6] talked about in a previous post, which suggested that NAC on it's own might have something to add when it comes to irritability in relation to some autism.  I don't necessarily endorse NAC as being a cure-all for irritability in relation to autism - irritability as part of the so-called challenging behaviours is a very multi-faceted thing with lots of potential precursors [7] - but one might give some consideration to NAC as an intervention for some on the autism spectrum. The next question needs to be: how precisely does it work, and does it have any link back to 'the big G' findings with autism in mind?

Music then. Marvin Gaye and Heard it Through The Grapevine (and something funky is going down apparently).


[1] Nikoo M. et al. N-Acetylcysteine as an Adjunctive Therapy to Risperidone for Treatment of Irritability in Autism: A Randomized, Double-Blind, Placebo-Controlled Clinical Trial of Efficacy and Safety. Clin Neuropharmacol. 2015 Jan 9.

[2] Rahbar MH. et al. Interaction between GSTT1 and GSTP1 allele variants as a risk modulating-factor for autism spectrum disorders. Research in Autism Spectrum Disorders. 2015; 12: 1-9.

[3] Ghanizadeh A. & Moghimi-Sarani E. A randomized double blind placebo controlled clinical trial of N-Acetylcysteine added to risperidone for treating autistic disorders. BMC Psychiatry. 2013 Jul 25;13:196.

[4] Farokhnia M. et al. N-acetylcysteine as an adjunct to risperidone for treatment of negative symptoms in patients with chronic schizophrenia: a randomized, double-blind, placebo-controlled study. Clin Neuropharmacol. 2013 Nov-Dec;36(6):185-92.

[5] Dinnissen M. et al. Clinical and pharmacokinetic evaluation of risperidone for the management of autism spectrum disorder. Expert Opin Drug Metab Toxicol. 2015 Jan;11(1):111-24.

[6] Hardan AY. et al. A randomized controlled pilot trial of oral N-acetylcysteine in children with autism. Biol Psychiatry. 2012 Jun 1;71(11):956-61.

[7] Guinchat V. et al. Acute behavioral crises in psychiatric inpatients with autism spectrum disorder (ASD): Recognition of concomitant medical or non-ASD psychiatric conditions predicts enhanced improvement. Research in Developmental Disabilities. 2015; 38: 242–255.

---------- Nikoo M, Radnia H, Farokhnia M, Mohammadi MR, & Akhondzadeh S (2015). N-Acetylcysteine as an Adjunctive Therapy to Risperidone for Treatment of Irritability in Autism: A Randomized, Double-Blind, Placebo-Controlled Clinical Trial of Efficacy and Safety. Clinical neuropharmacology PMID: 25580916

Thursday, 22 January 2015

At-risk kids avoiding an autism diagnosis?

The paper from Jonathan Green and colleagues [1] (open-access) discussing results based on a "two-site, two-arm assessor-blinded randomised controlled trial of families with an infant at familial high risk of autism aged 7–10 months, testing the adapted Video Interaction to Promote Positive Parenting (iBASIS-VIPP) versus no intervention" caught quite a few eyes recently. With accompanying media headlines such as 'Parents May Be Able to Lower Kids’ Autism Risk' you can imagine the interest created in such a study. I'll also at this point refer you to a commentary on the study from Cathy Lord [2].

Video interaction to promote positive parenting is by no means a new thing to autism research as per the paper by Poslawsky and colleagues [3]. The adapted - BASIS - program "works with parents using video-feedback to help them to understand and adapt to their infant's individual communication style to promote the best possible social and communicative development." Further: "the therapist makes videotapes of interactions between the parent and child in the home setting and uses video excerpts to work with the parent in a series of sessions that are developmentally sequenced to improve the quality of parent understanding of infant's communication." Treading carefully in this area, the idea that family processes can impact on autism presentation is gaining traction (see here).

Green and colleagues reported results based on 54 families with an infant deemed at high-risk of autism by virtue of having a sibling diagnosed with an autism spectrum disorder (ASD). Twenty eight families were randomly allocated to the intervention group and 26 to a "no intervention" group and participants were monitored and assessed over 5 months. Various measures were used during the trial including the "Manchester Assessment of Caregiver–Infant interaction (MACI)...  to measure infant attentiveness to parent and other interaction variables" and "the Autism Observation Scale for Infants (AOSI)" for the assessment of "early behavioural risk markers for children with ASD."

Results: "point estimates suggest that the intervention increased the primary outcome of infant attentiveness to parent." The authors are rightly careful about this result however because "CIs [confidence intervals] sometimes include the null" across various results. Wide CI's crossing the null are to be viewed with some degree of caution. Likewise other results such as "the intervention reduced autism-risk behaviours" carry the same optimistic yet guarded message.

That all being said, the headline about such intervention potentially 'lowering autism risk' are perhaps a little premature based on the current results. As per some of the media on the study and Prof. Green commenting: "He stressed that the babies have not been tested yet for autism, which will occur when they are around 3 years old, but that the changes he and his team saw strongly suggest that the path to autism may have been interrupted, or at least suppressed in some way." So we wait to see what actually happened to those infants at high-risk and whether intervention actually provided some protection against receipt of a diagnosis of ASD.

I have to say that I was really quite interested in these findings. I am cautious following some of the other findings reported by the authors as per the potential effect of such an intervention on "developmental language measures" and possible "reduced responsiveness to language sounds in the intervention group" but await further results on how this might eventually pan out. Early intervention such as this is a up-coming area in autism research (see here) and the idea that brain and behaviour are plastic and development not potentially as immutable as was once thought. I personally would like to see this area developed further bearing in mind the concept of differing developmental trajectories being associated with autism, and I assume similarly pertinent to high-risk siblings too. I'd also be minded to suggest that a greater focus on the broader autism phenotype (BAP) might be implied in further research (see here) as well as some additional data on the possible genetic/epigenetic/biochemical/neurological correlates which might coincide with the potential efficacy of such early intervention.

Given the previous not-so-effective results of the PACT initiative by some of the authors (see here) I can also imagine the current results were probably received in a more optimistic fashion by the team involved. We wait for further research...


[1] Green J. et al. Parent-mediated intervention versus no intervention for infants at high risk of autism: a parallel, single-blind, randomised trial. Lancet Psychiatry. 2015. Jan 22.

[2] Lord C. Infant autism: parents' role in ameliorating risk? Lancet Psychiatry. Jan 22.

[3] Poslawsky IE. et al. Development of a Video-feedback Intervention to promote Positive Parenting for Children with Autism (VIPP-AUTI). Attach Hum Dev. 2014;16(4):343-55.

---------- Jonathan Green, Tony Charman, Andrew Pickles, Ming W Wan, Mayada Elsabbagh, Vicky Slonims, Carol Taylor, Janet McNally, Rhonda Booth, Teodora Gliga, Emily J H Jones, Clare Harrop, Rachael Bedford, Mark H Johnson, & the BASIS team (2015). Parent-mediated intervention versus no intervention for infants at high risk of autism: a parallel, single-blind, randomised trial The Lancet Psychiatry :

Experts and autism screening triage

Whilst hopefully using the word 'triage' in the right way in the title of this post, I want to briefly talk today about the paper by Terisa Gabrielsen and colleagues [1] (full-text version here) and their observation that when it came to "brief but highly focused observations", a group of psychologists (well, two of them) "with toddler and autism expertise" missed over a third of cases of children who required additional examination/screening for autism or autistic traits.

I am Meredith Vickers, and it is my
job to make sure you do yours.
Some media attention for this study can be found here alongside the quote: "medical professionals can't rely solely on their clinical judgment to detect autism risk." This is a slightly misleading quote given that autism is by definition a behavioural diagnosis with clinical judgement formed on the basis of presented behaviours (and developmental history) in the absence of any biological or genetic test. Perhaps more usefully it should have read that 'some' medical professionals can't rely solely on their clinical judgement to detect 'some' autism risk. Sorry to be so pedantic but it is an important point; that and realising that early detection/diagnosis of autism is still a work in progress.

Gabrielsen and colleagues focused on a small group of infants/children aged between 15-33 months who were screened and assessed to determine their membership of one of three group: autism, speech/language delay and asymptomatic controls. Expert raters were then invited to view video samples of the children and "asked for autism referral impressions based solely on individual 10-minute observations." Unsurprisingly, some children positioned in the autism group were missed, hence the headlines and comments like: "It's often not the pediatrician's fault that referrals are missed".

Another media quote from the study authors is also worthwhile highlighting: "Parents see their children at their very best and very worst... They're the experts for their children. They can be educated about signs and symptoms, and need to help their care providers by speaking up if there's a problem and being involved in referral decisions." I like the idea of passing power back to parents when it comes to autism screening. As per other posts on this blog about parental concerns (see here) and the pre-diagnostic journey (see here), parents are the experts on their own children and medical experts and others alike might perhaps take a little more notice of them when red flags are raised for example.

Oh and whilst we're on the subject of autism screening, remember, remember the work of Dennis Wall and colleagues (see here) on YouTube videos and lay raters among other things...

Music to close, and the exquisite sound of The Shires...


[1] Gabrielsen TP. et al. Identifying Autism in a Brief Observation. Pediatrics. 2015. January 12.

---------- Terisa P. Gabrielsen, Megan Farley, Leslie Speer, Michele Villalobos, Courtney N. Baker, & Judith Miller (2015). Identifying Autism in a Brief Observation Pediatrics : 10.1542/peds.2014-1428

Wednesday, 21 January 2015

Features of autism in childhood epilepsy

"In conclusion, features of ASD [autism spectrum disorder] were common in children with epilepsy regardless of cognitive ability."

Whoa, whoa, whoa! Sorry, Blondie. I don't do backstory
So said Colin Reily and colleagues [1] in their paper examining facets of autism in cases of childhood epilepsy. Suggesting also that the Autism Spectrum Screening Questionnaire (ASSQ) might be "a useful screening instrument in this population, and combining parent and teacher forms was optimal in terms of screening properties", this work adds to other research voices suggesting a possible connection between autism/autistic traits and adult epilepsy too (see here).

I don't want to over-analyse the Reilly results beyond what they found and importantly, their limitations (as in the emphasis on 'features of autism' over and above an actual diagnosis of autism). One might see this research as further evidence of the intimate link between autism and epilepsy / seizure-type disorder(s) potentially intersecting with other issues such as sleep for example [2]. That also various other areas of biological functioning might also be related [3] makes for a potentially interesting future research agenda. Oh and then there is a possible connection with ADHD (attention-deficit hyperactivity disorder) to consider [4] too.

One of the other important issues potentially implied from the Reilly results is whether the possibility of an overlap between autistic traits and epilepsy might also have repercussions in relation to intervention and management. I say this on the basis for example, of the case report (stress: case report) recently described by Philip Bird [5] on the use of low-dose phenytoin - an anticonvulsant medicine - with a man diagnosed with ASD and the implications for various facets of functioning. Appreciating that certain anti-epileptic medications seem to have a rather less positive relationship with autism (see here), it strikes me that there may be more to see and do in this area for certain people...

Music then. I Am The Walrus. Not literally, but The Beatles song.


[1] Reilly C. et al. Features of autism spectrum disorder (ASD) in childhood epilepsy: A population-based study. Epilepsy Behav. 2014 Dec 16;42C:86-92.

[2] Accardo JA. & Malow BA. Sleep, epilepsy, and autism. Epilepsy Behav. 2014 Dec 9. pii: S1525-5050(14)00533-2.

[3] Frye RE. Metabolic and mitochondrial disorders associated with epilepsy in children with autism spectrum disorder. Epilepsy Behav. 2014 Nov 4. pii: S1525-5050(14)00412-0.

[4] Ettinger AB. et al. Attention-deficit/hyperactivity disorder symptoms in adults with self-reported epilepsy: Results from a national epidemiologic survey of epilepsy. Epilepsia. 2015. 15 Jan.

[5] Bird P. The treatment of autism with low-dose phenytoin: a case report. Journal of Medical Case Reports 2015, 9:8

---------- Reilly C, Atkinson P, Das KB, Chin RF, Aylett SE, Burch V, Gillberg C, Scott RC, & Neville BG (2014). Features of autism spectrum disorder (ASD) in childhood epilepsy: A population-based study. Epilepsy & behavior : E&B, 42C, 86-92 PMID: 25529303

Tuesday, 20 January 2015

Autism and low vitamin D at birth

Discussions about vitamin D (the 'sunshine' vitamin/hormone) and autism are not unfamiliar to this blog. Just last year (2014) I covered research talking about the possibility of a connection between vitamin D and [some] autism at least three times (see here and see here and see here), possibly more.
..but in my game, I'm the bad guy,
and I live in the garbage.

I wouldn't say that I'm an advocate for everything implied by the correlations being made between vitamin D levels and autism given that vitamin D levels have also been linked to everything from depression (see here) to schizophrenia (see here), issues which might also show some passing connection for some people on the autism spectrum (see here for example). But I am interested in how this research area is evolving...

And evolving it is, as yet another study has been published on vitamin D and autism, this time from Elisabeth Fernell and colleagues [1] (open-access) based at the University of Gothenburg in Sweden. Examining 25-hydroxyvitamin D (25(OH)D) levels in dried blood spots "taken in the neonatal period for metabolic screening", researchers concluded that: "low prenatal vitamin D may act as a risk factor for ASD [autism spectrum disorder]."

Aside from some happiness that the fantastic resource which is the neonatal blood spot is being put to good scientific use with autism in mind (see here), I was particularly interested to read about the findings from this research group given their previous foray in this area (see here) based on the paper from Kočovská and colleagues [2] (open-access). On that occasion they concluded that young adults diagnosed with an ASD were, as a group, quite a bit more likely to present with lower vitamin D levels than siblings, parents and an asymptomatic control group.

Back to the Fernell paper, and a few pointers might be in order:

  • "The aim of the present study was to address the emerging hypothesis that low levels of vitamin D at birth increase the risk for ASD." OK.
  • Sibling pairs were used, one child diagnosed with autism, the other "non-ASD affected". Participants were drawn from two samples, a Gothenburg catchment area sample and a "Stockholm Somali group" which have been previously used in a prevalence study of autism in Somali children in Sweden (see here). Those in the know about autism research will perhaps have heard about autism and Somali children a few times before (see here).
  • Participants were coded according to ethnicity into one of three groups: Swedish, Miscellaneous (non-Scandinavian Europe, South America and East Asia) and African/Middle East. This was due to: "well-known ethnic disparity of vitamin D status."
  • Results: "Children to parents of non-Scandinavian ethnicities had lower mean 25(OH)D levels than children to Swedish parents." See the previous point. 
  • "The mean 25(OH)D level was lower in children with ASD... than in their siblings." This trend was significant in "the Swedish and Miscellaneous groups, but not in the African/Middle East group." The authors report that season of birth, a potentially important factor in birth vitamin D levels was likely not the primary variable to account for the ASD - non-ASD sibling differences but there were some disparities noted. I would also draw your attention to another comment from the authors: "Since we studied newborn children before diagnosis, our results are definitely unrelated to lifestyle and diet of the individual, although the mother’s lifestyle and other environmental factors cannot be ruled out."
  • Author conclusion: their findings may support: "the hypothesis that developmental vitamin D deficiency during late pregnancy may carry an increased risk of ASD in the child." Alongside, that is, the requirement for further research with larger numbers of participants.

I would certainly echo the sentiments of the authors for the need for larger-scales studies of any connection between low pregnancy/birth vitamin D levels and risk of autism. This is however not the first time that this issue has been studied as per my commentary on the results from Whitehouse and colleagues [3] (see here) who based on the use of the Autism-Spectrum Quotient (AQ) (itself the topic of some recent inquiry) concluded that: "Maternal 25(OH)-vitamin D concentrations were unrelated to offspring scores on the majority of scales" bearing in mind their focus on mums not offspring when assaying for vitamin D.

A few further points before I let you go about your business.

"In this study we did not examine other possible causes for ASD, such as for instance infections during pregnancy." A very important point indeed if one looks at some of the research literature in this area (see here).

"Autoimmunity is another possible cause for ASD, which was not investigated. However, as low vitamin D is suggested to contribute to the pathogenesis of autoimmunity... our findings could be relevant in this context as well." Again, another potentially important point raised here on the basis of other research which has brought the issue of autoimmunity into the autism-vitamin D frame (see here). More generally, the issue of autoimmunity and autism is of increasing research interest.

Finally, the authors leave us with a tantalising question: "whether or not adequate supplementation of vitamin D to pregnant women might lower the risk for ASD in the offspring"? Before anyone get's ahead of themselves, I think we need quite a bit more discussion and study on this question specific to autism given that more generally vitamin D for pregnant women is seemingly being more frequently indicated.

Just one more thing (to coin a phrase)... although no-one really knows the specific hows, whys and wherefores of any vitamin D connection to autism, I'd be minded to suggest that physiological issues such as gut permeability (yes, it is a real thing) might also register on any future research endeavours given data like that from Assa and colleagues [4] adding to an already interesting area (see here). I'm not saying that this is the only potential factor but one among many.

Music: Do you feel lucky punk?


[1] Fernell E. et al. Autism spectrum disorder and low vitamin D at birth: a sibling control study. Molecular Autism. 2015; 6: 3.

[2] Kočovská E. et al. Vitamin D in the General Population of Young Adults with Autism in the Faroe Islands. J Autism Dev Disord. 2014 Jun 14.

[3] Whitehouse AJ. et al. Maternal vitamin D levels and the autism phenotype among offspring. J Autism Dev Disord. 2013 Jul;43(7):1495-504.

[4] Assa A. et al. Vitamin D Deficiency Predisposes to Adherent-invasive Escherichia coli-induced Barrier Dysfunction and Experimental Colonic Injury. Inflamm Bowel Dis. 2015 Jan 14.

---------- Elisabeth Fernell, Susanne Bejerot, Joakim Westerlund, Carmela Miniscalco, Henry Simila, Darryl Eyles, Christopher Gillberg, & Mats B Humble (2015). Autism spectrum disorder and low vitamin D at birth: a sibling control study. Molecular Autism : 10.1186/2040-2392-6-3

Monday, 19 January 2015

Taking care of mum following receipt of an offspring autism diagnosis

The commentary by Elizabeth Karp & Alice Kuo [1] recently published in JAMA brought my attention back to the 2014 findings from Emily Feinberg and colleagues [2] (open-access) reporting on: "positive effects of PSE [problem-solving education] in reducing parenting stress and depressive symptoms during the critical postdiagnosis period" - that is, moves to taking care of maternal mental health after a child receives a diagnosis of autism or autism spectrum disorder (ASD).
This is Jessie, the roughest, toughest
cowgirl in the whole west.

As per the UK National Autistic Society (NAS) guidance: "An autism diagnosis can be difficult to come to terms with" in light of the impact on both parents, siblings and significant others. The guidance continues: "It will take time to learn how to help your child and family cope with day-to-day life. You have the right to feel annoyed or frustrated. It’s hard to remain positive when things don’t go as planned and it is natural to feel upset."

Such are the sentiments voiced by many parents as and when a child is diagnosed with autism. Without wishing to demonise or other -ise the label, some groups have talked about a period of 'grief' being associated with receipt of the diagnosis (see here) at the early stages of the journey and the various adjustments that will often need to be made. During such times, parental and sibling physical and mental health can be adversely affected.

The Feinberg study is open-access, but a few details might be useful:

  • Mothers of 122 children who had recently received a diagnosis of autism/ASD were the study participants. They were randomly assigned to receive PSE (n=59) or "usual care" (n=63). PSE by the way, is "a manualized cognitive behavioral intervention" which focuses on identifying "a single, measurable problem" to "then proceed through a series of steps that involve goal setting, brainstorming, and evaluating solutions, choosing a solution, and action planning." The authors have some previous research form in this area [3]. Usual care by the looks of things involved the focus on the child and their needs/requirements but nothing "specifically includes parent-focused mental health services."
  • Various measures were analysed according to the use of PSE or usual care including parenting stress "using the Parenting Stress Index Short Form (PSI)", the amount of depressive symptoms experienced and coping style among other things.
  • Results: "At the 3-month follow-up assessment, PSE mothers were significantly less likely than those serving as controls to have clinically significant parental stress." Very good news by all accounts. With regards to depressive symptoms, "the difference by treatment arm in the risk of experiencing clinically significant depressive symptoms approached statistical significance." For scientific puritans, the emphasis is on the word 'approached' rather than 'reached' statistical significance. That being said: "the reduction in mean depressive symptoms was statistically significant" favouring the PSE group.
  • The authors are rightly cautious about their findings, especially when it comes to the need for longer term follow-up of their intervention/non-intervention groups and the suggestion that further inquiry might be needed to identify best-responders. They conclude however: "Despite the limited scope of the present analysis, the findings are encouraging."

With all the chatter about autism research becoming truly translational in terms of bringing findings out of the science world and into the real world, this kind of study strikes me as being particularly important. Without trying to get too tangled up in the psychology speak of the mother-child relationship, evidence suggests that family processes and in particular, the mother-child relationship, can have some bearing on outcome when it comes to autism (see here). Caregiver stress and/or depression is likely to impact on such processes and hence, anything that can alleviate any excesses should be cautiously viewed as a positive thing. Stress has also been mentioned in more extreme ways too.

That being said, I'm not necessarily advocating that a 'manualized cognitive behaviour intervention' is the be-all-and-end-all of approaching maternal mental health and wellbeing when it comes to autism. There are lots of other ways that this can be [variably] achieved from something like a stress point of view, as per other discussions (see here). Again from the NAS guidance: "Try to get some time on your own to relax, even if it is just to walk the dog or do the washing up, and try not to feel guilty about doing this. Everyone deserves some time out to recharge the batteries." 'Washing up' I might add, is not a mother-only task, but the sentiments of 'stepping back' and keeping home routines as intact as possible are potentially important features of the adaptation phase. Autism research needs to catch-up [4].

Now, about paternal health and wellbeing [5] (sorry about the slightly archaic language)...

And because today is supposed to be Blue Monday (or not), here's Blue Monday by New Order.


[1] Karp EA. & Kuo AA. Maternal mental health after a child's diagnosis of autism spectrum disorder. JAMA. 2015 Jan 6;313(1):81-2.

[2] Feinberg E. et al. Improving maternal mental health after a child's diagnosis of autism spectrum disorder: results from a randomized clinical trial. JAMA Pediatr. 2014 Jan;168(1):40-6.

[3] Feinberg E. et al. Adaptation of problem-solving treatment for prevention of depression among low-income, culturally diverse mothers. Fam Community Health. 2012 Jan-Mar;35(1):57-67.

[4] Dykens EM. Family adjustment and interventions in neurodevelopmental disorders. Curr Opin Psychiatry. 2015 Jan 15.

[5] Fisman S. & Wolf L. The handicapped child: psychological effects of parental, marital, and sibling relationships. Psychiatr Clin North Am. 1991 Mar;14(1):199-217.

---------- Feinberg E, Augustyn M, Fitzgerald E, Sandler J, Ferreira-Cesar Suarez Z, Chen N, Cabral H, Beardslee W, & Silverstein M (2014). Improving maternal mental health after a child's diagnosis of autism spectrum disorder: results from a randomized clinical trial. JAMA pediatrics, 168 (1), 40-6 PMID: 24217336