Phenotypic psychiatric characterization of children with Williams syndrome and response of those with ADHD to methylphenidate treatment

Green, Tamar; Avda, Sarit; Dotan, Inbar; Zarchi, Omer; Basel‐Vanagaite, Lina; Zalsman, Gil; Weizman, Abraham; Gothelf, Doron

doi:10.1002/ajmg.b.31247

Cited by 35 publications

(27 citation statements)

References 48 publications

Supporting

Mentioning

Contrasting

Unclassified

Order By: Relevance

“…High emotionality is defined as the tendency to become upset easily and intensely. The high emotionality in 22q11.2DS and WS is probably also reflected in the high rates of ADHD and ODD in the two syndromes [5-7]. We believe that the high emotionality of individuals with the two syndromes stems from a biological impairment of mood regulation and disinhibition, and the tendency of these individuals to respond with great intensity when confronted with difficulties [4,38].…”

Section: Discussionmentioning

confidence: 99%

“…The two syndromes are associated with high rates of psychiatric disorders including attention deficit/hyperactivity disorder (ADHD), oppositional defiant disorder (ODD), and phobias. Social anxiety disorder is more prevalent in 22q11.2DS while specific phobia is more common in WS [5-7]. Up to one-third of individuals with 22q11.2DS develop schizophrenia-like psychotic disorders during adolescence and early adulthood, making 22q11.2DS the most commonly known genetic syndrome associated with schizophrenia [8,9].…”

Section: Introductionmentioning

confidence: 99%

“…Individuals with 22q11.2DS and WS also share common medical comorbidities (e.g., calcium dysregulation and cardiovascular anomalies) and neuroanatomical aberrations (e.g., pronounced decreased volumes in parieto-occipital regions) [1,3,5,13,14]. Although quite a few studies have examined the behavioral phenotypes of 22q11.2DS and WS, only a few studies have directly compared the behavioral phenotypes of these two syndromes.…”

Section: Introductionmentioning

confidence: 99%

See 2 more Smart Citations

Shyness discriminates between children with 22q11.2 deletion syndrome and Williams syndrome and predicts emergence of psychosis in 22q11.2 deletion syndrome

Schonherz

Davidov

Knafo

et al. 2014

J Neurodevelop Disord

Self Cite

View full text Add to dashboard Cite

Background22q11.2 deletion syndrome (22q11.2DS) is a common neurogenetic syndrome associated with high rates of psychosis. The aims of the present study were to identify the unique temperament traits that characterize children with 22q11.2DS compared to children with Williams syndrome (WS) and typically developing (TD) controls, and to examine temperamental predictors of the emergence of psychosis in 22q11.2DS.MethodsThe temperament of 55 children with 22q11.2DS, 36 with WS, and 280 TD children was assessed using the Emotionality, Activity, Sociability (EAS) Temperament Survey, Parental Ratings. The presence of a psychotic disorder was evaluated in 49 children and adolescents with 22q11.2DS at baseline and again 5.43 ± 2.23 years after baseline temperament assessment.ResultsChildren with 22q11.2DS scored higher on Shyness compared to WS and TD controls. Children with 22q11.2DS and WS scored higher on Emotionality and lower on Activity compared to TD controls. Shyness was more severe in older compared to younger children with 22q11.2DS. Baseline Shyness scores significantly predicted the later emergence of a psychotic disorder at follow-up, in children with 22q11.2DS.ConclusionsOur results suggest that shyness is an early marker associated with the later emergence of psychosis in 22q11.2DS.

show abstract

Section: Discussionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

See 1 more Smart Citation

Shyness discriminates between children with 22q11.2 deletion syndrome and Williams syndrome and predicts emergence of psychosis in 22q11.2 deletion syndrome

Schonherz

Davidov

Knafo

et al. 2014

J Neurodevelop Disord

Self Cite

View full text Add to dashboard Cite

show abstract

“…A study on individuals with WS showed that the combination of SSRIs and low doses of low-potency antipsychotics seems to be the most suitable medication to treat Generalized Anxiety disorder [68]. In a study on response to methylphenidate treatment of individuals with WS and with ADHD, a decrease in the rate of Anxiety disorders and clinically significant improvement were reported [69]. However, the evidence base for specific psychopharmacologic treatment in populations with ID is limited and warrants future prospective controlled trials for a more targeting intervention.…”

Section: Discussionmentioning

confidence: 99%

Detecting Psychiatric Profile in Genetic Syndromes: A Comparison of Down Syndrome and Williams Syndrome

Vicari¹,

Costanzo²,

Arm³

et al. 2016

J Genet Syndr Gene Ther

View full text Add to dashboard Cite

The occurrence and co-occurrence of psychiatric disorders have been more frequently reported in people with Intellectual Disability (ID) than in the general population. The present study was aimed at verifying whether the psychiatric profile of individuals with ID is just a consequence of ID or derives from a specific genotype. The psychiatric profile of 112 individuals with Down syndrome (DS) and 85 with Williams syndrome (WS) was examined. The interactions between psychiatric symptom clusters and the effect of age were also investigated.Participants with WS had higher rates of psychiatric disorders, and, specifically, of Anxiety disorders and Psychosis than DS. However, the psychiatric profile changed by age, since Anxiety disorder was higher in individuals with WS compared to DS in young age, while Psychosis in old age. A relation between the occurrence of disorders, as Anxiety disorder and Mood Disorder, was found only in participants with WS. Moreover, distinct Anxiety and Behavior Disorder subtypes emerged between groups.Results indicate that the genetic etiology of ID differently affects the psychiatric characteristics of the groups and suggest the importance of a targeted psychiatric care for individuals with WS and DS.

show abstract

“…Os pacientes apresentam um comportamento hipersociável, inclusive com estranhos (Gosch e Pankau, 1994;Doyle et al, 2004), porém com relacionamentos interpessoais muitas vezes inapropriados (Einfeld et al, 1997). Sintomas como ansiedade excessiva, fobias, sintomas obsessivos-compulsivos, comportamentos estereotipados, distúrbios do sono, déficit de atenção e hiperatividade podem ser encontrados desde a infância na SWB, podendo exigir terapia farmacológica (Udwin e Yule, 1991;Bawden et al, 1997;Einfeld et al, 1997;Power et al, 1997;Green et al, 2012). Com a idade, sintomas depressivos podem surgir em alguns pacientes (Einfeld et al, 1997), contrastando com a personalidade expansiva observada previamente na infância.…”

Section: Características Clínicasunclassified

Detecção da microdeleção 7q11.23 por MLPA® e estudo clínico dos pacientes com síndrome de Williams-Beuren

Honjo¹

View full text Add to dashboard Cite

(Versão corrigida. Resolução CoPGr 5890, de 20 de dezembro de 2010.A versão original está disponível na Biblioteca FMUSP) São Paulo 2012À minha família e amigos, que me incentivaram a buscar esta conquista.Ao meu pai, Léo, que partiu antes da concretização deste projeto e que deixou saudades em meu coração.À minha mãe, Rósa, e ao meu irmão, Guilherme, pelo incentivo, carinho e apoio nos momentos difíceis.Ao Henry, pelo carinho, compreensão, suporte e paciência... muita paciência! AgradecimentosAos pacientes e seus familiares, que aceitaram participar desse estudo e me ensinaram muito nesse tempo de convivência, tanto profissional como pessoalmente.À Profa. Dra Chong Ae Kim, pelo carinho, paciência, orientações e suporte ao longo desses anos. Tenho consciência da sorte de tê-la encontrado em minha vida e agradeço por ter me recebido tão calorosamente na Unidade Portanto, o MLPA® constitui-se um método promissor na investigação diagnóstica da SWB. Por ser uma doença multissistêmica, a SWB exige cuidados multidisciplinares e acompanhamento específico a fim de se prevenir complicações.

show abstract

Phenotypic psychiatric characterization of children with Williams syndrome and response of those with ADHD to methylphenidate treatment

Cited by 35 publications

References 48 publications

Shyness discriminates between children with 22q11.2 deletion syndrome and Williams syndrome and predicts emergence of psychosis in 22q11.2 deletion syndrome

Shyness discriminates between children with 22q11.2 deletion syndrome and Williams syndrome and predicts emergence of psychosis in 22q11.2 deletion syndrome

Detecting Psychiatric Profile in Genetic Syndromes: A Comparison of Down Syndrome and Williams Syndrome

Detecção da microdeleção 7q11.23 por MLPA® e estudo clínico dos pacientes com síndrome de Williams-Beuren

Contact Info

Product

Resources

About