Showing posts with label congenital heart disease (CHD). Show all posts
Showing posts with label congenital heart disease (CHD). Show all posts

Saturday, 6 May 2017

Congenital heart disease and autism and ADHD: Taiwan wades in

"The incidence rates of perinatal comorbidities, EDD [early developmental disorders], ADHD [attention-deficit hyperactivity disorder], and ASD [autism spectrum disorder] were higher in the CHD [congenital heart disease] group than in the control group."

So said the findings reported by Pei-Chen Tsao and colleagues [1] investigating an issue that has cropped up more than once on this blog in relation to the developmental/behavioural correlates possibly associated with a diagnosis of congenital heart disease (CHD) (see here and see here). As per the title of this post, the scientific weight of the Taiwanese National Health Insurance Research Database (NHIRD) was brought into this research area, examining the developmental records of some 3500 under 18-year olds diagnosed with CHD compared with over 14,000 age- and sex-matched controls. Researchers looked for both diagnoses of ADHD and ASD in participant records as well as: "Comorbid perinatal conditions and early developmental disorders (EDD) that were diagnosed before ADHD and ASD diagnosis."

Results: well, just about everything looked for in the groups was found more frequently in the CHD grouping even after adjustment for various potentially confounding variables. Authors also reported that: "the risk for ADHD... and ASD... was greatly increased in CHD subjects with EDD than in non-CHD subjects without EDD" and onwards something of a cumulative effect when EDD and CHD were found comorbid.

The implications of such results? Well, yet again I'll refer you back to the first time I talked about CHD and autism on this blog (see here) in terms of possible hows-and-whys and future research directions. The added issue of preferential screening for developmental issues/diagnoses when a diagnosis of CHD is received also comes to the forefront (yet again). Said screening might also include other elements too [2]...

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[1] Tsao PC. et al. Additive effect of congenital heart disease and early developmental disorders on attention-deficit/hyperactivity disorder and autism spectrum disorder: a nationwide population-based longitudinal study. Eur Child Adolesc Psychiatry. 2017 Apr 17.

[2] Wu XL. et al. Chromosome microarray analysis in the investigation of children with congenital heart disease. BMC Pediatrics. 2017; 17: 117.

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ResearchBlogging.org Tsao PC, Lee YS, Jeng MJ, Hsu JW, Huang KL, Tsai SJ, Chen MH, Soong WJ, & Kou YR (2017). Additive effect of congenital heart disease and early developmental disorders on attention-deficit/hyperactivity disorder and autism spectrum disorder: a nationwide population-based longitudinal study. European child & adolescent psychiatry PMID: 28417257

Wednesday, 5 April 2017

Paediatric congenital heart disease and autism risk (again)

"Risk of autism spectrum disorder screening status in children with congenital heart defects was higher than expected from population rates."

So said the findings reported by Jessica Bean Jaworski and colleagues [1] who set about "to assess the rates of autism spectrum disorders in a large sample of children with a history of congenital heart defects and to assess medical, behavioral, and individual factors that may be associated with the risk of autism spectrum disorders." Covering a topic that has graced this blog before (see here) the results reiterate that there may be many roads to, and correlates associated with, a diagnosis of autism spectrum disorder (ASD). Congenital heart defects by the way, is a blanket term covering various issues related to the structure and function of the heart that are present at birth.

Based on the examination of nearly 200 children "with a history of congenital heart defects" the data produced invites quite a bit more investigation on (i) the prevalence of autism/ASD in cases of congenital heart defects and (ii) the mechanism of how said heart issues might *link* to the presentation of autism. On that last point, my previous post on this topic (see here) provided a few research ideas. Given also that congenital heart defects do require care across the lifespan, I assume that such care will also be similarly afforded to those diagnosed with a congenital heart defect and autism, save any further health inequalities appearing.

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[1] Bean Jaworski JL. et al. Rates of autism and potential risk factors in children with congenital heart defects. Congenit Heart Dis. 2017 Mar 16.

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ResearchBlogging.org Bean Jaworski JL, Flynn T, Burnham N, Chittams JL, Sammarco T, Gerdes M, Bernbaum JC, Clancy RR, Solot CB, Zackai EH, McDonald-McGinn DM, & Gaynor JW (2017). Rates of autism and potential risk factors in children with congenital heart defects. Congenital heart disease PMID: 28299880

Thursday, 12 February 2015

15q11.2 microdeletion, developmental delay and congenital heart disease

"Our results support the hypothesis that 15q11.2 (BP1-BP2) microdeletion is associated with developmental delay, abnormal behaviour, generalized epilepsy and congenital heart disease."

So it was written in the paper from Vanlerberghe and colleagues [1] following their analysis of 52 "unrelated patients" diagnosed with 15q11.2 microdeletion, a 'novel' microdeletion syndrome according to other research [2].

Your REAL problem's the monkey.
Autism spectrum disorder (ASD) is mentioned in the Vanlerberghe paper as per the suggestion that "63.4% had psychological issues such as Attention Deficit and Hyperactivity Disorder, Autistic Spectrum Disorder or Obsessive-Compulsive Disorder" and hence why this paper is fodder for this blog. Quite ESSENCE-like if you want my honest opinion.

Actually, I do have a few other reasons for briefly discussing this paper, bearing in mind my considerable lack of knowledge and experience when it comes to all-things genetics. So, quite recently I talked about 15q Duplication Syndrome (Dup15q) (see here) and how the gut and gastrointestinal (GI) symptoms have been a focus not so long ago. I know that Dup15q and 15q11.2 microdeletion are not the same thing - one is about gains and the other about losses of genetic material (I think!) - but they are talking about the same chromosome, and that chromosome has been linked to quite a few conditions (see here). I wondered whether anyone had investigated GI issues in cases of 15q11.2 microdeletion? Answer: sort of [3] with perhaps lots more research to do.

The other reason I was drawn to the Vanlerberghe paper was the suggestion of "associated congenital heart disease in 17.3%" of their participant group. Congenital heart disease (CHD) covers quite a bit of diagnostic ground and again, I don't profess to be an expert in this area. That being said, I'll draw your attention to a post written not-so-long-ago discussing the paper from Hilda Razzaghi and colleagues [4] (see here) which concluded that: "Children aged 2-17 with CHD were more likely than those without CHD to have had a diagnosis of autism spectrum disorder (crude OR, 4.6; 95% CI, 1.9-11.0) or intellectual disability (crude OR, 9.1; 95% CI, 5.4-15.4)." It strikes me that 15q11.2 microdeletion might have something further to contribute when it comes to any future research talking about CHD and autism (or autism+). I'm not saying that the microdeletion will universally fill in the blanks but it might play a possible role.

And now for some opera... from Carmen - Habanera.

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[1] Vanlerberghe C. et al. 15q11.2 Microdeletion (BP1-BP2) and Developmental delay, Behaviour issues, Epilepsy and Congenital heart disease: a series of 52 patients. Eur J Med Genet. 2015 Jan 14. pii: S1769-7212(15)00006-3.

[2] Doornbos M. et al. Nine patients with a microdeletion 15q11.2 between breakpoints 1 and 2 of the Prader–Willi critical region, possibly associated with behavioural disturbances. European Journal of Medical Genetics. 2009; 52: 108-115.

[3] Wong D. et al. Expanding the BP1-BP2 15q11.2 Microdeletion Phenotype: Tracheoesophageal Fistula and Congenital Cataracts. Case Reports in Genetics. 2013. 801094.

[4] Razzaghi H. et al. Long-term outcomes in children with congenital heart disease: national health interview survey. J Pediatr. 2015 Jan;166(1):119-124.e1.

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ResearchBlogging.org Vanlerberghe C, Petit F, Malan V, Vincent-Delorme C, Bouquillon S, Boute O, Holder-Espinasse M, Delobel B, Duban B, Vallee L, Cuisset JM, Lemaitre MP, Vantyghem MC, Pigeyre M, Lanco-Dosen S, Plessis G, Gerard M, Decamp M, Mathieu M, Morin G, Jedraszak G, Bilan F, Gilbert-Dussardier B, Fauvert D, Roume J, Cormier-Daire V, Caumes R, Puechberty J, Genevieve D, Sarda P, Pinson L, Blanchet P, Lemeur N, Sheth F, Manouvrier-Hanu S, & Andrieux J (2015). 15q11.2 Microdeletion (BP1-BP2) and Developmental delay, Behaviour issues, Epilepsy and Congenital heart disease: a series of 52 patients. European journal of medical genetics PMID: 25596525

Tuesday, 18 November 2014

Paediatric congenital heart disease and autism risk?

"Children aged 2-17 with CHD [congenital heart disease] were more likely than those without CHD to have had a diagnosis of autism spectrum disorder (crude OR, 4.6; 95% CI, 1.9-11.0) or intellectual disability (Crude OR, 9.1; 95% CI, 5.4-15.4)".
The traveller @ Wikipedia 

That was a key conclusion reported in the study by Hilda Razzaghi and colleagues [1] based on their analysis of data from "the 1997-2011 National Health Interview Survey", a US initiative which aims to provide "information on the health of the U.S. civilian noninstitutionalized population through confidential interviews conducted in households" (see here).

I have to say that I was pretty interested in these findings (even though this is not the first time that neurodevelopmental outcomes have been tied to CHD); a view it seems, that was shared by the authors of the paper, bearing in mind the very wide confidence intervals (CIs) detailed for both conditions and the reliance on second-hand reporting over actual independent screening results. I can't readily offer any one 'smoking gun' explanation for the findings specifically in relation to the autism spectrum but will draw your attention to some discussion about the potential causes of congenital heart disease provided by the NHS Choices websites and how they might tie in.

So: various genetic conditions including Down's syndrome are linked to CHD [2] and the net seems to be closing in on some of the underlying genetics around the association [3]. Although still in need of quite a bit more study, there is a growing appreciation that a diagnosis of autism / autistic traits can coexist alongside a diagnosis of Down's syndrome (see here). As per a recent conversation (thanks Marilyn), one also wonders how this autism - Down's syndrome link might also play out with regards to other areas of the autism research landscape such as dietary effects for example...

Next up is maternal diabetes. As per the NHS Choices entry: "It is estimated that 3 to 6% of women with diabetes who become pregnant will give birth to a baby with a heart defect". Autism and maternal diabetes is an interesting topic which has again cropped up in the autism research literature [4]. If you want my take on the Xu meta-analysis paper and related literature, look no further...

After that is a role for alcohol consumption during pregnancy and mention of the condition called foetal alcohol syndrome (FAS). I have talked about FAS and foetal alcohol spectrum disorder (FASD) before on this blog in the context of autism (see here) but can't readily conclude that the links are overly strong between FAS/FASD and autism presentation.

"A rubella infection can cause multiple birth defects, including congenital heart disease". An interesting association given the history of rubella and autism based to quite a large extent on the work from Stella Chess [5]. I don't know enough about the rate of rubella infection in pregnant women to make any informed statement about how this risk factor might tie into both CHD and autism but the numbers of non-immune women do seem to be quite alarming here in the UK [6].

Influenza during pregnancy? "Women who get flu during the first trimester (three months) of pregnancy are twice as likely to give birth to a baby with congenital heart disease than the general population" according to the NHS Choices website. Regular readers of this blog might already know that I tend to talk quite a bit about how infection - immune system response to infection - during pregnancy seems to have some link to subsequent offspring psychology and development (see here). The link is not altogether straight forward with autism in mind and potentially better related to concepts like fever or fever control [7] but still, there might be more to do here.

The final links - certain medications taken during pregnancy, phenylketonuria (PKU) and exposure to organic solvents during pregnancy - have also, to various extents, been linked to autism (see here and see here for example).

I may very well just be plucking at straws trying to link the causes of CHD with some of the suspected 'causes' of autism (some autism at least) but it strikes me that if one was to further pursue the findings reported by Razzaghi et al those would be the places to start (assuming some shared effect). As per the reports of other physiological findings potentially manifesting alongside a diagnosis of autism (see here), some additional screening of children on the autism spectrum where one or more of the correlates of CHD are suspected might be indicated.

Peter Gabriel and Kate Bush with a beautiful song to close: Don't Give Up.

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[1] Razzaghi H. et al. Long Term Outcomes in Children with Congenital Heart Disease: National Health Interview Survey. J Pediatr. 2014 Oct 8. pii: S0022-3476(14)00820-8.

[2] Laursen HB. Congenital heart disease in Down's syndrome. Br Heart J. Jan 1976; 38(1): 32–38.

[3] Ramachandran D. et al. Contribution of copy-number variation to Down syndrome-associated atrioventricular septal defects. Genet Med. 2014 Oct 23. doi: 10.1038/gim.2014.144.

[4] Xu G. et al. Maternal diabetes and the risk of autism spectrum disorders in the offspring: a systematic review and meta-analysis. J Autism Dev Disord. 2014 Apr;44(4):766-75.

[5] Chess S. Follow-up report on autism in congenital rubella. J Autism Child Schizophr. 1977 Mar;7(1):69-81.

[6] Skidmore S. et al. Is the MMR vaccination programme failing to protect women against rubella infection? Epidemiol Infect. 2014 May;142(5):1114-7.

[7] Zerbo O. et al. Is maternal influenza or fever during pregnancy associated with autism or developmental delays? Results from the CHARGE (CHildhood Autism Risks from Genetics and Environment) study. J Autism Dev Disord. 2013 Jan;43(1):25-33.

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ResearchBlogging.org Razzaghi H, Oster M, & Reefhuis J (2014). Long Term Outcomes in Children with Congenital Heart Disease: National Health Interview Survey. The Journal of pediatrics PMID: 25304924