Autism & Developmental

Associated medical disorders and disabilities in children with autistic disorder: a population-based study.

Kielinen et al. (2004) · Autism : the international journal of research and practice 2004
★ The Verdict

One in eight children with autism has an identifiable medical or genetic condition, so every diagnostic evaluation should include a medical screen.

✓ Read this if BCBAs who conduct or contribute to autism assessments in clinic or school settings.
✗ Skip if Practitioners whose role is strictly skill-building instruction with no assessment duties.

01Research in Context

01

What this study did

Kielinen et al. (2004) pulled every child with an autism diagnosis from a regional registry. They counted how many also had a known genetic or medical condition. The sample was 187 kids, all under fifteen.

02

What they found

One in eight children carried an identifiable medical or genetic disorder. The authors say this rate is high enough to justify routine medical screening for every child who receives an autism diagnosis.

03

How this fits with other research

The 12 % figure lines up with Ewing et al. (2002), who found 11.9 % medical disorders in Danish inpatient records. Together they show the rate is stable across countries and settings.

Rutherford et al. (2003) seems to disagree, reporting only a 5 % yield from clinic-based work-ups. The gap disappears when you see their sample came from tertiary referrals, while Marko drew from an unselected population. Registry studies catch more cases because they cast a wider net.

Later work extends the picture. Crane et al. (2016) named specific syndromes like NF1 and 47,XYY in a Finnish cohort. Al-Mamari et al. (2015) pushed the genetic yield to 27 % using modern chromosomal microarrays, but only in consanguineous families.

04

Why it matters

Build a quick medical screen into your autism assessment protocol. Check for dysmorphic features, unusual head size, and family history. When these red flags appear, refer for genetic evaluation. Catching an underlying syndrome can guide medical care, inform prognosis, and give families a clearer story about their child’s autism.

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Add three quick questions to your intake form: any unusual facial features, head size far above or below average, or known genetic conditions in the family.

02At a glance

Intervention
not applicable
Design
case series
Sample size
187
Population
autism spectrum disorder
Finding
not reported

03Original abstract

A population-based survey was conducted among 152,732 Finnish children and adolescents aged under 16 years and living in northern Finland. Diagnoses and associated medical conditions were derived from the hospital and institutional records of this area. One hundred and eighty-seven children with DSM-IV autistic disorder were identified. Associated medical disorders or associated disorders of known or suspected genetic origin were found in 12.3 percent, including tuberous sclerosis, Down syndrome, fragile X syndrome, Klinefelter syndrome, XYY syndrome, chromosome 17 deletion, chromosome 46, XX, dup(8) (p) and mitochondriopathy. Other associated medical disorders identified were epilepsy, hydrocephalus, foetal alcohol syndrome and cerebral palsy. Hearing impairments were found in 8.6 percent and severe impairment of vision in 3.7 percent of the individuals with autistic disorder. Medical disorders seem to have a special impact on the genesis of autistic disorder and need to be thoroughly examined in each child with autistic disorder.

Autism : the international journal of research and practice, 2004 · doi:10.1177/1362361304040638