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Cognitive functioning of young children with Apert's syndrome

K Sarimski1

  • 1Kinderzentrum München, Germany.

Genetic Counseling (Geneva, Switzerland)
|January 1, 1997
PubMed

Insights

Apert syndrome, a genetic disorder, affects cognitive abilities in children. While some exhibit normal intelligence, many face intellectual challenges, particularly with memory and math skills, necessitating psychological monitoring.

Area of Science:

  • Pediatric Genetics
  • Neurodevelopmental Disorders
  • Cognitive Psychology

Background:

  • Apert syndrome is a rare genetic disorder characterized by premature fusion of skull bones (craniosynostosis), midface underdevelopment, and webbing of fingers and toes.
  • The syndrome's impact on cognitive development and intellectual functioning in affected children is not fully understood.
  • Early identification of cognitive profiles is crucial for timely intervention and support.

Purpose of the Study:

  • To evaluate the cognitive functioning and intellectual abilities of children diagnosed with Apert syndrome.
  • To identify specific areas of cognitive strengths and weaknesses in this patient population.
  • To provide recommendations for psychological monitoring and support strategies.

Main Methods:

  • Cognitive abilities were assessed in 11 children with Apert syndrome, aged 2.5 to 12.3 years.
  • Standardized intelligence quotient (IQ) tests were administered to determine overall intellectual functioning.
  • Specific cognitive domains, including short-term memory and arithmetic skills, were evaluated.

Main Results:

  • Four children (36%) presented with normal IQ scores.
  • Four children (36%) fell into the borderline intellectual functioning range.
  • Three children (27%) were diagnosed with intellectual disability.
  • A consistent relative deficit was observed in short-term memory and arithmetic abilities across the evaluated children.

Conclusions:

  • Children with Apert syndrome exhibit a wide spectrum of cognitive abilities, with a significant proportion experiencing intellectual challenges.
  • Specific deficits in short-term memory and arithmetic are characteristic of cognitive profiles in Apert syndrome.
  • Regular psychological monitoring and targeted interventions are recommended for children with Apert syndrome to address identified cognitive weaknesses.

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