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Disabilities and cognition in children and adolescents with 22q11 deletion syndrome

S Oskarsdóttir1, M Belfrage, E Sandstedt

  • 1The Queen Silvia Children's Hospital, Department of Paediatrics, Sahlgrenska Academy at Göteborg University, SE-416 85 Göteborg, Sweden. solveig.oskarsdottir@vgregion.se

Developmental Medicine and Child Neurology
|March 3, 2005
PubMed

Insights

Children with 22q11 deletion syndrome often experience significant neurological, motor, and cognitive challenges. These disabilities impact their development and participation in daily activities, requiring substantial support.

Area of Science:

  • Pediatric Neurology
  • Developmental Pediatrics
  • Genetics

Background:

  • 22q11 deletion syndrome is a genetic disorder associated with a wide range of developmental issues.
  • Understanding the specific disabilities is crucial for early intervention and support.

Purpose of the Study:

  • To investigate the spectrum of cognitive and other disabilities in children and adolescents with 22q11 deletion syndrome.
  • To assess the impact of these disabilities on motor function and participation.

Main Methods:

  • A cohort of 33 children and adolescents (ages 3-19) with 22q11 deletion were evaluated.
  • Assessments included growth, development, neurology, cognition (IQ), motor function, and participation (handicap).

Main Results:

  • Delayed motor milestones were common, with half never crawling and walking delayed (mean 18 months).
  • Hypotonia (n=25), poor balance (n=24), and definite motor problems (n=17) were prevalent.
  • Intellectual quotient (IQ) scores ranged from 50-100, with 26 children scoring below 84; Verbal IQ exceeded Performance IQ.
  • A moderate level of handicap was observed, with most children requiring extra school support.

Conclusions:

  • Children with 22q11 deletion syndrome exhibit multiple, varied neurological, motor, and cognitive impairments.
  • The combination of these challenges leads to reduced participation and necessitates comprehensive support strategies.

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