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

Laura Timonen-Soivio1,2, Raija Vanhala3, Heli Malm4,5

  • 1Department of Child Psychiatry, University of Turku and Turku University Hospital, Lemminkäisenkatu 3/Teutori, 20014, Turku, Finland. lamtim@utu.fi.

Journal of Autism and Developmental Disorders
|April 22, 2016
PubMed

Insights

Specific congenital syndromes are linked to autism spectrum disorder (ASD). This study found associations with 47,XYY, Sotos syndrome, and neurofibromatosis I, particularly in males with ASD.

Area of Science:

  • Medical Genetics
  • Developmental Neuroscience
  • Public Health

Background:

  • Autism spectrum disorder (ASD) is a complex neurodevelopmental condition.
  • Etiological heterogeneity of ASD is increasingly recognized.
  • Congenital syndromes are known risk factors for various developmental disorders.

Purpose of the Study:

  • To investigate the association between specific congenital syndromes and ASD.
  • To analyze the prevalence of congenital malformations in children diagnosed with ASD.
  • To compare the occurrence of syndromes in ASD cases versus controls.

Main Methods:

  • Utilized the Finnish Hospital Discharge Register (1987-2000) for ASD cases (n=4441).
  • Matched controls (n=17,695) based on sex, birthplace, birth date, and residence.
  • Evaluated congenital syndrome prevalence using the Finnish Register of Congenital Malformations.

Main Results:

  • Significant associations found between ASD and specific syndromes: 47,XYY, Sotos syndrome, neurofibromatosis I, and unspecified syndromes.
  • Congenital syndromes were more prevalent in males with ASD compared to controls.
  • Results indicate a link between distinct etiological syndromes and ASD.

Conclusions:

  • The findings support the etiological heterogeneity of autism spectrum disorder.
  • Identified congenital syndromes have implications for clinical evaluation and management of ASD.
  • Further research into specific syndrome-ASD links is warranted.

Keywords:
Autism spectrum disorderChromosomal abnormalitiesSingle gene disordersSyndromic autism

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