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Autistic disorders in children with CHARGE association

E Fernell1, V A Olsson, C Karlgren-Leitner

  • 1Department of Paediatrics, Huddinge University Hospital, Sweden.

Developmental Medicine and Child Neurology
|June 4, 1999
PubMed

Insights

CHARGE association, a rare disorder, can co-occur with autistic disorder in children. Early recognition and a multidisciplinary approach are crucial for managing these complex cases.

Area of Science:

  • Pediatric Neurology
  • Developmental Pediatrics
  • Genetics

Background:

  • CHARGE association is a complex genetic disorder with diverse clinical manifestations.
  • Autistic disorder is a neurodevelopmental condition characterized by social and communication deficits.
  • The co-occurrence of CHARGE association and autistic disorder presents unique diagnostic and management challenges.

Observation:

  • Reported are three children with CHARGE association and concomitant autistic disorder.
  • Two of these children also presented with mental retardation.
  • Cerebral maldevelopment or dysfunction is a known feature in CHARGE association.

Findings:

  • Autism in CHARGE association may stem from neuro-endocrine dysfunction.
  • The neural crest has been implicated in the etiology of CHARGE association.
  • Autistic behaviors can be overlooked in children with CHARGE association due to their numerous medical issues.

Implications:

  • A comprehensive, multidisciplinary approach is essential for the assessment, treatment, and habilitation of children with CHARGE association and autism.
  • Increased awareness of this comorbidity is vital for timely diagnosis and intervention.
  • Further research into the neurobiological underpinnings of autism in CHARGE association is warranted.

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