Autism & Developmental

Brief Report: Syndromes in Autistic Children in a Finnish Birth Cohort.

Timonen-Soivio et al. (2016) · Journal of autism and developmental disorders 2016
★ The Verdict

Autistic kids—especially boys—are more likely to have specific genetic syndromes, so screen thoroughly.

✓ Read this if BCBAs who assess or write treatment plans for young children with autism.
✗ Skip if Clinicians only working with idiopathic ASD cases already fully worked up by genetics.

01Research in Context

01

What this study did

Crane et al. (2016) looked at every child born in Finland over one year. They pulled hospital records to find who had autism and who also had a named genetic syndrome.

They matched each autistic child to a non-autistic child from the same city and birth month. Then they counted how many syndromes like 47,XYY, Sotos, or NF1 showed up in each group.

02

What they found

Autistic children carried these syndromes far more often than their matched peers. The gap was biggest in boys.

The data say autism is not one-size-fits-all; many cases trace to specific, diagnosable medical conditions.

03

How this fits with other research

Sparaci et al. (2015) already showed that kids with autism-plus-ID have more eye, brain, and face malformations. The 2016 paper zooms in and names the exact syndromes behind those malformations.

Moss et al. (2009) reviewed earlier case reports and said each syndrome presents autism-like behaviors in its own way. The Finnish cohort now gives population-level proof that these syndromes really are more common in autism.

Kielinen et al. (2004) found about one in eight autistic children had any medical-genetic disorder. Laura’s team updates the list and shows the specific syndromes to hunt for during assessment.

04

Why it matters

If you evaluate a child for autism, add a genetic and physical exam to the routine. Look for the syndromes this paper flags; early diagnosis can unlock targeted medical care and clearer family counseling. When you write reports, state that autism can be a symptom of an underlying syndrome, not just a stand-alone diagnosis.

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Add a quick check for dysmorphic features and refer for genetic consult when you spot them.

02At a glance

Intervention
not applicable
Design
quasi experimental
Sample size
4441
Population
autism spectrum disorder
Finding
positive

03Original abstract

We studied the association between specific congenital syndromes and autism spectrum disorders (ASD) in the large Finnish Register material. Our data include all children diagnosed with ASD (n = 4441) according to Finnish Hospital Discharge Register in 1987-2000. Four controls per each case were matched to sex, birthplace, date of birth (±30 days) and residence in Finland (n = 17,695). The prevalence of specific congenital syndromes in the Finnish Register of Congenital Malformations was evaluated among the ASD group and the controls by sex. The results of this study suggest that there is an association between several etiologically different syndromes and ASD when compared to controls without ASD. Statistically significant associations were observed with 47,XYY, Sotos syndrome, neurofibromatosis I, and syndrome not otherwise specified. Syndromes were more common among males with ASD compared to controls. These results support the previous studies of etiological heterogeneity of ASD and have importance in clinical examination, management and rehabilitation.

Journal of autism and developmental disorders, 2016 · doi:10.1007/s10803-016-2789-2