Temperament in velocardiofacial syndrome

Antshel, Kevin M.; Stallone, Kimberly; AbdulSabur, Nuria; Shprintzen, Robert J.; Roizen, Nancy; Higgins, Anne Marie; Kates, Wendy R.

doi:10.1111/j.1365-2788.2006.00859.x

Cited by 28 publications

(19 citation statements)

References 44 publications

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“…Relative to unaffected siblings and typical controls, children with 22q11.2DS have a generally more difficult temperament. 35 Specifically, children with the syndrome were rated as being less regular in their daily habits (e.g. eating at the same time each day, etc.…”

Section: Behavioral Challengesmentioning

confidence: 99%

Behavioral and Psychiatric Phenotypes in 22q11.2 Deletion Syndrome

Tang

Antshel

Fremont

et al. 2015

Journal of Developmental &Amp; Behavioral Pediatrics

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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.

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Section: Behavioral Challengesmentioning

confidence: 99%

Behavioral and Psychiatric Phenotypes in 22q11.2 Deletion Syndrome

Tang

Antshel

Fremont

et al. 2015

Journal of Developmental &Amp; Behavioral Pediatrics

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“…First, the inflexible temperament and social rigidness that characterize many 22q11.2DS children shapes the nature of the dyadic interaction a priori. Moreover, 22q11.2DS children are less likely to express their emotions, to smile, to socially engage with parents, and to initiate joint activities or to keep partaking in such activities over time (Antshel et al 2007). That, in turn, reinforces the child's communication difficulties, which leads to greater efforts on the mother's part to bring the child back into the social milieu.…”

Section: Discussionmentioning

confidence: 97%

“…Children with 22q11.2DS are also reported by caregivers as being less cheerful and pleasant, less likely to stay with an activity for a long time, and less capable of responding flexibly to changes in comparison to their healthy siblings and TD controls (Antshel et al 2007;Angkustsiri et al 2014).…”

Section: Introductionmentioning

confidence: 94%

Mother–Child Interaction as a Window to a Unique Social Phenotype in 22q11.2 Deletion Syndrome and in Williams Syndrome

Weisman

Feldman

Burg-Malki

et al. 2015

J Autism Dev Disord

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Mother-child interactions in 22q11.2 Deletion syndrome (22q11.2DS) and Williams syndrome (WS) were coded for maternal sensitivity/intrusiveness, child's expression of affect, levels of engagement, and dyadic reciprocity. WS children were found to express more positive emotions towards their mothers compared to 22q11.2DS children and those with developmental delay in a conflict interaction. During the same interaction, dyads of 22q11.2DS children were characterized by higher levels of maternal intrusiveness, lower levels of child's engagement and reduced reciprocity compared to dyads of typically developing children. Finally, 22q11.2DS children with the COMT Met allele showed less adaptive behaviors than children with the Val allele. Dyadic behaviors partially coincided with the distinct social phenotypes in these syndromes and are potential behavioral markers of psychopathological trajectory.

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“…The behavioral phenotype in childhood and adolescence comprises social withdrawal, a special attachment to mother or other caregivers, poor social skills, emotional instability, affective problems, anxieties, diminished flexibility and attention deficits (Swillen et al, 1999a; Debbané et al, 2006;Antshel et al, 2007), a developmental profile not typical for schizophrenia. Children with 22q11DS display a neuropsychological profile of relative verbal strength versus visuospatial and perceptual deficits (Swillen et al, 1999b;Lajiness-O'Neill et al, 2006) as well as an impaired short term verbal memory (Majerus et al, 2007), whereas at later age significant impairments in visuoperceptual ability, problem solving and planning are present (Henry et al, 2002).…”

Section: Q11 Deletion Syndrome (22q11ds)mentioning

confidence: 98%

Clinical perspectives on the genetics of schizophrenia: A bottom-up orientation

Verhoeven

Tuinier

2008

neurotox res

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Phenomenology has been the reference point that investigators have used in their efforts to understand schizophrenia. Although symptoms and signs are crucial for the diagnosis of schizophrenia, there is an ongoing debate since Kraepelin attempted to group symptoms to understand the etiology of schizophrenia. Several operational criteria have been developed to establish the diagnosis of schizophrenia, making it obvious that there are no precise symptomatological boundaries. There is little clear indication which of the systems is valid for genetic and other biological research. Despite the enormous effort to find a linkage between schizophrenia and one or more loci, the results are far from conclusive. Another approach is the search for candidate genes of which DICS1 and 22q11 deletion syndrome are examples. In all studies into the genetic underpinnings of schizophrenia, however, the clinical vantage point is neglected in that a broad clinical phenotype with respect to, e.g., developmental issues, symptoms and comorbidity is narrowed down to one categorical diagnosis. This is illustrated by the lack of exclusion criteria in genetic studies and by the occurrence of schizophrenia-like psychoses in a broad array of genetic syndromes. In case of 22q11 deletion syndrome, the psychotic symptoms emerge in the context of brain anomalies, a plethora of somatic abnormalities and specific neurocognitive deficits. Prader-Willi syndrome is a hypothalamic disorder in which psychotic symptoms may occur that resemble schizophrenia. It is concluded that not only schizophrenia is a highly variable disease but that the genetic samples are even much more heterogeneous.

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Temperament in velocardiofacial syndrome

Abstract: The best predictors of parent report of behavioural symptoms in children with VCFS were poor concordance between parent and child temperament across general activity level and mood domains.

Cited by 28 publications

References 44 publications

Behavioral and Psychiatric Phenotypes in 22q11.2 Deletion Syndrome

Behavioral and Psychiatric Phenotypes in 22q11.2 Deletion Syndrome

Mother–Child Interaction as a Window to a Unique Social Phenotype in 22q11.2 Deletion Syndrome and in Williams Syndrome

Clinical perspectives on the genetics of schizophrenia: A bottom-up orientation

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