Chromosome 22q11 deletion syndrome (CATCH 22): neuropsychiatric and neuropsychological aspects

Dev Med Child Neurol. 2002 Jan;44(1):44-50. doi: 10.1017/s0012162201001645.


Twenty children and young adults (age range 5 to 33 years, 12 females and eight males) with genetically confirmed 22q11 deletion syndrome (CATCH 22: Cardiac anomaly, Anomalous face, Thymus hypoplasia/aplasia, Cleft palate, and Hypocalcaemia), recruited from a large ongoing study, were given comprehensive assessments with a view to determining the pattern of neuropsychiatric and neuropsychological deficits thought to be part of the syndrome in many cases. IQ ranged between 46 and 100 with a mean score of 70. Half the group had an IQ <70. In 13 individuals, attention-deficit-hyperactivity disorder (ADHD), mainly inattentive or combined type in most cases, and/or autism spectrum problems were diagnosed. Many participants, even among those who had an IQ within the normal range and had neither ADHD nor autistic spectrum problems, showed a characteristic and pronounced behavioural profile with low mental energy, initiation difficulties, deficits in sustained attention, and social interaction (often augmented by limited facial expression and communication and speech problems).

Publication types

  • Case Reports

MeSH terms

  • Abnormalities, Multiple / genetics
  • Abnormalities, Multiple / psychology*
  • Adolescent
  • Adult
  • Attention
  • Attention Deficit Disorder with Hyperactivity / etiology
  • Autistic Disorder / etiology
  • Child
  • Child Behavior Disorders / etiology*
  • Child, Preschool
  • Chromosome Deletion*
  • Chromosomes, Human, Pair 22 / genetics*
  • Cleft Palate
  • Cognition Disorders / etiology*
  • Face / abnormalities
  • Female
  • Heart Defects, Congenital
  • Humans
  • Hypocalcemia
  • Intelligence*
  • Male
  • Social Behavior Disorders
  • Syndrome
  • Thymus Gland / abnormalities
  • Thymus Gland / pathology