Cognitive phenotype of velocardiofacial syndrome: A review

Furniss, Frederick; Biswas, Amitava; Gumber, Rohit; Singh, Niraj Kumar

doi:10.1016/j.ridd.2011.05.039

Cited by 26 publications

(16 citation statements)

References 62 publications

Supporting

Mentioning

Contrasting

Order By: Relevance

“…6 A wide range of general cognitive abilities (mild intellectual disability to average IQ) has been observed with mean full-scale IQ (FSIQ) scores typically in the borderline range, 7 with approximately 50% of individuals with scores less than 70, and performance IQ (PIQ) slightly lower than verbal IQ. 6,8,9 It is important to note, however, that this IQ pattern is not present across all individuals with 22q11.2DS. In studies of intellectual functioning throughout development in 22q11.2DS, cognitive abilities were found to be inversely associated with age, with both VIQ and PIQ scores showing a cross-sectional decline with age.…”

Section: Introductionmentioning

confidence: 91%

“…10,11 Vorstman, et al, 12 using a large, pooled cross-sectional dataset from an international research consortium, reported that individuals with 22q11.2DS between 8 and 24 years of age showed an average 7-point decline in FSIQ, driven by an average 9-point decline in VIQ and average 5.1-point decline in PIQ. Attention abilities are impaired, 9,13 as are deficits in executive function, shifting attention, working memory, and reactive response inhibition. 14–19 Impairments in visuospatial perception and visuospatial memory are also common in 22q11.2DS, 6,20–23 and are often thought to be the underlying reason for mathematical deficits.…”

Section: Introductionmentioning

confidence: 99%

See 1 more Smart Citation

Behavioral and Psychiatric Phenotypes in 22q11.2 Deletion Syndrome

Tang

Antshel

Fremont

et al. 2015

Journal of Developmental &Amp; Behavioral Pediatrics

View full text Add to dashboard Cite

22q11.2DS is a chromosomal microdeletion that affects approximately 40–50 genes, and impacts various organs and systems throughout the body. Detection is typically achieved by fluorescence in-situ hybridization following diagnosis of one of the major features of the deletion or via chromosomal microarray or non-invasive prenatal testing. The physical phenotype can include congenital heart defects, palatal and pharyngeal anomalies, hypocalcemia/hypoparathyroidism, skeletal abnormalities, and cranial/brain anomalies, although prevalence rates of all of these features are variable. Cognitive function is impaired to some degree in most individuals, with prevalence rates of greater than 90% for motor/speech delays and learning disabilities. Attention, executive function, working memory, visual spatial abilities, motor skills, and social cognition/social skills are affected. The deletion is also associated with an increased risk for behavioral disorders and psychiatric illness. The early onset of psychiatric symptoms common to 22q11.2DS disrupts the development and quality of life of individuals with the syndrome, and is also a potential risk factor for later development of a psychotic disorder. This review discusses prevalence, phenotypic features, and management of psychiatric disorders commonly diagnosed in children and adolescents with 22q11.2DS, including autism spectrum disorders, attention deficit/hyperactivity disorder, anxiety disorders, mood disorders, and schizophrenia/psychotic disorders. Guidelines for the clinical assessment and management of psychiatric disorders in youth with this syndrome are provided, as are treatment guidelines for the use of psychiatric medications.

show abstract

Section: Introductionmentioning

confidence: 91%

Section: Introductionmentioning

confidence: 99%

Behavioral and Psychiatric Phenotypes in 22q11.2 Deletion Syndrome

Tang

Antshel

Fremont

et al. 2015

Journal of Developmental &Amp; Behavioral Pediatrics

View full text Add to dashboard Cite

show abstract

Section: Other Genetic Conditionsmentioning

confidence: 99%

“…28 Patients have high rates of bipolar disorder, ADHD and psychosis. 28 In a 3-year follow-up study, 80 children with velocardio facial syndrome (mean age 11.2 years) were compared with 33 unaffected siblings (mean age 12.2 years) as well as 40 healthy controls matched for age, gender and socio economic status. 29 Of those with velocardiofacial syndrome, 15% had nocturnal enuresis and 4% had faecal incontinence; 3 years later, 9% continued to have nocturnal enuresis as adolescents.…”

Section: Other Genetic Conditionsmentioning

confidence: 99%

Urinary incontinence in children with special needs

Gontard

2013

Nat Rev Urol

View full text Add to dashboard Cite

Nocturnal enuresis, daytime urinary incontinence, lower urinary tract symptoms and faecal incontinence are more common in children with special needs than in typically developing children. Children with intellectual disability, which can be attributed to a range of causes, are particularly affected. Indeed, the epidemiological and clinical studies conducted to date show clear associations that children with special needs have higher rates of urinary (and faecal) incontinence than children without development, physical or cognitive impairments. For example, low intelligence quotient (IQ)-associated physical disability and conditions such as Fragile X and Rett syndromes increase the risk for incontinence, which can persist into adulthood if left untreated. Although the association of attention deficit hyperactivity disorder and incontinence has been shown in many studies, further research is needed on other specific disorders, such as autism. As many children are not receiving adequate care, specific multimodal treatments based on rigorous assessment of the incontinence, underlying condition and associated comorbid disorders should be actively offered.

show abstract

“…22q11DS is associated with a distinctive cognitive phenotype 104,105. The majority of the patients with 22q11DS have an overall intellectual level that falls in the borderline IQ range of 70–84 106,107.…”

Section: Psychiatric Phenotype Of 22q11dsmentioning

confidence: 99%

22q11 deletion syndrome: a review of the neuropsychiatric features and their neurobiological basis

Squarcione¹,

Torti²,

Fabio³

et al. 2013

NDT

View full text Add to dashboard Cite

The 22q11.2 deletion syndrome (22q11DS) is caused by an autosomal dominant microdeletion of chromosome 22 at the long arm (q) 11.2 band. The 22q11DS is among the most clinically variable syndromes, with more than 180 features related with the deletion, and is associated with an increased risk of psychiatric disorders, accounting for up to 1%–2% of schizophrenia cases. In recent years, several genes located on chromosome 22q11 have been linked to schizophrenia, including those encoding catechol-O-methyltransferase and proline dehydrogenase, and the interaction between these and other candidate genes in the deleted region is an important area of research. It has been suggested that haploinsufficiency of some genes within the 22q11.2 region may contribute to the characteristic psychiatric phenotype and cognitive functioning of schizophrenia. Moreover, an extensive literature on neuroimaging shows reductions of the volumes of both gray and white matter, and these findings suggest that this reduction may be predictive of increased risk of prodromal psychotic symptoms in 22q11DS patients. Experimental and standardized cognitive assessments alongside neuroimaging may be important to identify one or more endophenotypes of schizophrenia, as well as a predictive prodrome that can be preventively treated during childhood and adolescence. In this review, we summarize recent data about the 22q11DS, in particular those addressing the neuropsychiatric and cognitive phenotypes associated with the deletion, underlining the recent advances in the studies about the genetic architecture of the syndrome.

show abstract

Cognitive phenotype of velocardiofacial syndrome: A review

Cited by 26 publications

References 62 publications

Behavioral and Psychiatric Phenotypes in 22q11.2 Deletion Syndrome

Behavioral and Psychiatric Phenotypes in 22q11.2 Deletion Syndrome

Urinary incontinence in children with special needs

22q11 deletion syndrome: a review of the neuropsychiatric features and their neurobiological basis

Contact Info

Product

Resources

About