Neuropsychiatric disorders in the 22q11 deletion syndrome

Abstract

Purpose: This study was undertaken with a view to establishing the occurrence of neuropsychiatric disorders in the 22q11 deletion syndrome. Methods: Thirty-two children and young adults with genetically confirmed 22q11 deletion were given comprehensive neuropsychiatric assessments. Results: Altogether, 56% had a neuropsychiatric disorder. Only 6% were of normal IQ and free of physchiatric disorder. Attention-deficit/hyperactivity disorder was diagnosed in 44% and 31% had an autism spectrum problem. In 16% criteria for both these diagnoses were met. Fifty-three percent had mental retardation, often with a test-profile suggesting a nonverbal learning disorder. Conclusion:The findings imply that a majority of children and adolescents with 22q11 deletion syndrome are in need of neuropsychiatric assessment and intervention. Genetics in Medicine, 2001:3(1):79 -84.

Autism Spectrum Disorders and Symptoms in Children with Molecularly Confirmed 22q11.2 Deletion Syndrome

“…However, although a diagnosis of an ASD was appropriate for approximately 14% of the sample, this proportion represents a substantially lower number than previously suggested (Niklasson et al, 2001). The explanation for this discrepancy becomes clear when taking the methods of these studies into account.…”

“…However, other researchers studying samples of children and adolescents with a molecularly confirmed 22q11.2 deletion have suggested that these individuals exhibit symptoms characteristic of ASDs with far greater frequency than do children without the deletion (Niklasson et al, 2001;. Using the Asperger Syndrome Screening Questionnaire (Ehlers & Gillberg, 1993), Niklasson and colleagues (2001; reported that 31-35% of children and young adults in their sample of individuals with the 22q11.2 deletion exhibited some "autism spectrum problem."…”

Autismo: genética

“…One study reported that a third of 32 individuals with 22q11 deletion syndrome met criteria for ASD. 36 A specific transcript in this interval contributing to these findings has not yet been identified.…”

ISDN2014_0211: An fMRI study of facial emotion processing in children and adolescents with 22q11.2 deletion syndrome

“…While the physical phenotype is variable, commonly reported features include characteristic facial dysmorphology, congenital heart disease, and cleft palate [7,8]. A characteristic behavioural phenotype in 22q11DS has also been described-with high rates of schizophrenia, attention deficit (hyperactivity) disorder (ADD, ADHD) [3,[8][9][10][11][12][13], autistic spectrum disorders, anxiety disorders, and emotional instability [12][13][14][15][16][17]. In addition, children and adults with 22q11DS typically have mild intellectual disabilities and a characteristic cognitive profile-with particular deficits in visual-perceptual function and social and abstract reasoning [3,[17][18][19][20][21][22][23][24][25][26].…”

“…For instance, it has been reported that people with 22q11DS typically show a 'bland affect' with minimal facial expression, in addition to disinhibited and impulsive or serious and shy extremes of behaviour [17,25,30,31]. Furthermore, it has been reported that 20%-50% of children and adolescents in their sample of 22q11DS exhibited some 'autism spectrum problem [13,16,25,[32][33][34][35].' While reported prevalence of autistic spectrum disorder (ASD) among 22q11DS varies widely from study to study, it is nevertheless considerably higher than in the general population which is around 1% to 1.5% [36][37][38][39][40][41][42][43].…”