scholarly journals Axis I psychiatric diagnoses in adolescents and young adults with 22q11 deletion syndrome

2013 ◽  
Vol 28 (7) ◽  
pp. 417-422 ◽  
Author(s):  
O.Y. Ousley ◽  
E. Smearman ◽  
S. Fernandez-Carriba ◽  
K.A. Rockers ◽  
K. Coleman ◽  
...  
Keyword(s):  
Depressive Disorders ◽  
Clinical Care ◽  
22Q11.2 Deletion Syndrome ◽  
Autism Spectrum ◽  
Deletion Syndrome ◽  
Psychiatric Diagnoses ◽  
Schizophrenia Spectrum Disorders ◽  
Axis I ◽  
Dsm Iv ◽  
Spectrum Disorders

AbstractBackground22q11.2 deletion syndrome (22q11DS) associates with schizophrenia spectrum disorders (SSDs), autism spectrum disorders (ASDs), and other psychiatric disorders, but co-occurrence of diagnoses are not well described.MethodsWe evaluated the co-occurrence of SSDs, ASDs and other axis I psychiatric diagnoses in 31 adolescents and adults with 22q11DS, assessing ASDs using either stringent Collaborative Program for Excellence in Autism (ASD-CPEA) criteria, or less stringent DSM-IV criteria alone (ASD-DSM-IV).ResultsTen (32%) individuals met criteria for an SSD, five (16%) for ASD-CPEA, and five others (16%) for ASD-DSM-IV. Of those with ASD-CPEA, one (20%) met SSD criteria. Of those with ASD-DSM-IV, four (80%) met SSD criteria. Depressive disorders (8 individuals; 26%) and anxiety disorders (7; 23%) sometimes co-occurred with SSDs and ASDs. SSDs, ASDs, and anxiety occurred predominantly among males and depression predominantly among females.ConclusionsIndividuals with 22q11DS can manifest SSDs in the presence or absence of ASDs and other axis I diagnoses. The results suggest that standard clinical care should include childhood screening for ASDs, and later periodic screening for all axis I diagnoses.

scholarly journals Neurodevelopmental Trajectories and Psychiatric Morbidity: Lessons Learned From the 22q11.2 Deletion Syndrome

2021 ◽  
Vol 23 (3) ◽  
Author(s):  
Ania M. Fiksinski ◽  
Maude Schneider ◽  
Janneke Zinkstok ◽  
Danielle Baribeau ◽  
Samuel J. R. A. Chawner ◽  
...  
Keyword(s):  
Genetic Variants ◽  
Clinical Care ◽  
Psychiatric Morbidity ◽  
Phenotypic Expression ◽  
22Q11.2 Deletion Syndrome ◽  
Autism Spectrum ◽  
Lessons Learned ◽  
Deletion Syndrome ◽  
22Q11.2 Deletion ◽  
Variable Expression

AbstractPurpose of ReviewThe 22q11.2 deletion syndrome (22q11DS) is associated with a broad spectrum of neurodevelopmental phenotypes and is the strongest known single genetic risk factor for schizophrenia. Compared to other rare structural pathogenic genetic variants, 22q11DS is relatively common and one of the most extensively studied. This review provides a state-of-the-art overview of current insights regarding associated neurodevelopmental phenotypes and potential implications for 22q11DS and beyond.Recent FindingsWe will first discuss recent findings with respect to neurodevelopmental phenotypic expression associated with 22q11DS, including psychotic disorders, intellectual functioning, autism spectrum disorders, as well as their interactions. Second, we will address considerations that are important in interpreting these data and propose potential implications for both the clinical care for and the empirical study of individuals with 22q11DS. Third, we will highlight variable penetrance and pleiotropy with respect to neurodevelopmental phenotypes in 22q11DS. We will discuss how these phenomena are consistently observed in the context of virtually all rare pathogenic variants and that they pose substantial challenges from both a clinical and a research perspective.SummaryWe outline how 22q11DS could be viewed as a genetic model for studying neurodevelopmental phenotypes. In addition, we propose that 22q11DS research can help elucidate mechanisms underlying variable expression and pleiotropy of neurodevelopmental phenotypes, insights that are likely relevant for 22q11DS and beyond, including for individuals with other rare pathogenic genetic variants and for individuals with idiopathic neurodevelopmental conditions.

scholarly journals Characterizing Daily-Life Social Interactions in Adolescents and Young Adults with Neurodevelopmental Disorders: A Comparison Between Individuals with Autism Spectrum Disorders and 22q11.2 Deletion Syndrome

2022 ◽  
Author(s):  
Clémence Feller ◽  
Laura Ilen ◽  
Stephan Eliez ◽  
Maude Schneider
Keyword(s):  
Autism Spectrum Disorders ◽  
Social Interactions ◽  
Subjective Experience ◽  
Daily Life ◽  
22Q11.2 Deletion Syndrome ◽  
Autism Spectrum ◽  
Mobile App ◽  
Deletion Syndrome ◽  
22Q11.2 Deletion ◽  
Spectrum Disorders

AbstractSocial impairments are common features of 22q11.2 deletion syndrome (22q11DS) and autism spectrum disorders (ASD). The Ecological Momentary Assessment (EMA) allowed access to daily-life information in order to explore the phenomenology of social interactions. 32 individuals with 22q11DS, 26 individuals with ASD and 44 typically developing peers (TD) aged 12–30 were assessed during 6 days 8 times a day using a mobile app. Participants with 22q11DS and ASD did not spend more time alone but showed distinct implication in the social sphere than TD. Distinct profiles emerged between the two conditions regarding the subjective experience of aloneness and the subjective experience of social interactions. This study highlights distinct social functioning profiles in daily-life in 22q11DS and ASD that points towards different therapeutic targets.

scholarly journals Characterizing daily-life social interactions in adolescents and young adults with neurodevelopmental disorders: a comparison between individuals with Autism Spectrum Disorders and 22q11.2 deletion syndrome

2021 ◽  
Author(s):  
Clémence Mathilde Feller ◽  
Laura Ilen ◽  
Maude Schneider
Keyword(s):  
Autism Spectrum Disorders ◽  
Social Interactions ◽  
Subjective Experience ◽  
Daily Life ◽  
22Q11.2 Deletion Syndrome ◽  
Autism Spectrum ◽  
Deletion Syndrome ◽  
22Q11.2 Deletion ◽  
Social Impairments ◽  
Spectrum Disorders

Abstract Background: Social impairments are common features of several neurodevelopmental conditions, including 22q11.2 deletion syndrome (22q11DS) and autism spectrum disorders (ASD). However, little is known about social interactions in daily-life. The Ecological Momentary Assessment (EMA) was used to have access to daily-life information and to distinguish the phenomenology of social interactions between the two conditions, often considered as presenting a similar profile of social impairments.Methods: 32 individuals with 22q11DS, 26 individuals with ASD and 44 healthy controls (HC) aged 12-30 were recruited. All participants were assessed during 6 days 8 times a day using a mobile app. The EMA protocol assessed positive and negative affect, social context (alone versus in company) and the subjective experience of aloneness and social interactions.Results: Participants with 22q11DS and ASD did not spend more time alone, but spent less time with familiar individuals such as friends, and more time with people they live with, compared to HC. However, distinct profiles emerged between the two conditions regarding the subjective experience of aloneness, with more intense feelings of exclusion in participants with ASD compared to participants with 22q11DS and HC. The subjective appreciation of interactions revealed that individuals with ASD felt more judged and more nervous than both 22q11DS and HC. Nevertheless, both conditions expressed a higher desire to be alone when in company of other people than HC.Conclusions: This study highlights distinct social functioning profiles in daily-life in 22q11DS and ASD, giving new intel regarding the social phenotype in these conditions, and pointing towards different therapeutic targets.

scholarly journals Autoinflammatory Keratinization Disease With Hepatitis and Autism Reveals Roles for JAK1 Kinase Hyperactivity in Autoinflammation

2022 ◽  
Vol 12 ◽  
Author(s):  
Takuya Takeichi ◽  
John Y. W. Lee ◽  
Yusuke Okuno ◽  
Yuki Miyasaka ◽  
Yuya Murase ◽  
...  
Keyword(s):  
Tyrosine Kinases ◽  
22Q11.2 Deletion Syndrome ◽  
Autism Spectrum ◽  
Deletion Syndrome ◽  
Autosomal Dominant Disorder ◽  
Behavioral Deficits ◽  
Human Phenotype ◽  
Spectrum Disorders ◽  
Key Aspects ◽  
The Brain

Heterozygous mutations in JAK1 which result in JAK-STAT hyperactivity have been implicated in an autosomal dominant disorder that features multi-organ immune dysregulation. This study identifies another previously unreported heterozygous missense JAK1 mutation, H596D, in an individual with a unique autoinflammatory keratinization disease associated with early-onset liver dysfunction and autism. Using CRISPR-Cas9 gene targeting, we generated mice with an identical Jak1 knock-in missense mutation (Jak1H595D/+;I596I/+;Y597Y/+ mice) that recapitulated key aspects of the human phenotype. RNA sequencing of samples isolated from the Jak1H595D/+;I596I/+;Y597Y/+ mice revealed the upregulation of genes associated with the hyperactivation of tyrosine kinases and NF-κB signaling. Interestingly, there was a strong correlation between genes downregulated in Jak1H595D/+;I596I/+;Y597Y/+ mice and those downregulated in the brain of model mice with 22q11.2 deletion syndrome that showed cognitive and behavioral deficits, such as autism spectrum disorders. Our findings expand the phenotypic spectrum of JAK1-associated disease and underscore how JAK1 dysfunction contributes to this autoinflammatory disorder.

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

2005 ◽  
Vol 35 (4) ◽  
pp. 461-470 ◽  
Author(s):  
Sarah E. Fine ◽  
Alison Weissman ◽  
Marsha Gerdes ◽  
Jennifer Pinto-Martin ◽  
Elaine H. Zackai ◽  
...  
Keyword(s):  
Autism Spectrum Disorders ◽  
22Q11.2 Deletion Syndrome ◽  
Autism Spectrum ◽  
Deletion Syndrome ◽  
22Q11.2 Deletion ◽  
Spectrum Disorders

Not the same old madness: Evaluating the clinical profile of the “schizophrenia spectrum” disorders

2017 ◽  
Vol 41 (S1) ◽  
pp. s833-s834
Author(s):  
A. Russo ◽  
N. Verdolini ◽  
G. Menculini ◽  
P. Moretti ◽  
R. Quartesan ◽  
...  
Keyword(s):  
Negative Symptoms ◽  
Psychiatric Ward ◽  
Depression Symptom ◽  
Schizophrenia Spectrum Disorders ◽  
Schizophrenia Spectrum ◽  
Axis I ◽  
Dsm Iv ◽  
Cluster A ◽  
Spectrum Disorders ◽  
The Impact

IntroductionThe “schizophrenia spectrum” concept allowed better identifying the psychopathology underpinning disorders including schizophrenia, schizoaffective disorder (SZA) and cluster A personality disorders (PD).AimsTo compare the clinical portrait of the schizophrenia spectrum disorders, focusing on the impact of the affective dimension.MethodsInpatients at the acute psychiatric ward of Perugia (Umbria-Italy) were evaluated with the structured clinical interview for DSM-IV Axis I and Axis II disorders and diagnosed with a “schizophrenia spectrum” disorder according to DSM-IV-TR. The clinical evaluation was conducted using the positive and negative syndrome scale (PANSS). Pearson correlations of the different subscales in the three groups and between the negative scales with the affective symptom “depression” were conducted.ResultsThe sample consisted of 72 inpatients (schizophrenia 55.6%, SZA 20% and cluster A PD 19.4%). The negative and the general psychopathology scales directly correlated at different degrees in the three groups (schizophrenia: r = 0.750; P < 0.001; SZA: r = 0.625, P = 0.006; cluster A PD: r = 0.541, P = 0.046). The symptom “depression” directly correlated with 5 out of 7 negative symptoms: blunted affect (r = 0.616, P < 0.001), emotional withdrawal (r = 0.643, P < 0.001), poor rapport (r = 0.389, P = 0.001), passive/apathetic social withdrawal (r = 0.538, P < 0.001), lack of spontaneity & flow of conversation (r = 0.399, P = 0.001).ConclusionsOur study confirmed the existence of the “schizophrenia spectrum” with combined different disorders lying on a continuum in which negative symptoms mainly correlated with the psychopathological functioning. Noteworthy, the symptoms of the negative scale strongly correlated with the “depression” symptom, underlying the impact of the affective symptoms on the severity of the “schizophrenia spectrum” disorders.Disclosure of interestThe authors have not supplied their declaration of competing interest.

scholarly journals Developmental course of conversational behaviour of children with 22q11.2 deletion syndrome and Williams syndrome

2017 ◽  
Vol 37 (6) ◽  
pp. 583-611 ◽  
Author(s):  
Ellen Van Den Heuvel ◽  
Nicola Botting ◽  
Inge Boudewijns ◽  
Eric Manders ◽  
Ann Swillen ◽  
...  
Keyword(s):  
Autism Spectrum Disorders ◽  
Intellectual Disability ◽  
Williams Syndrome ◽  
22Q11.2 Deletion Syndrome ◽  
Autism Spectrum ◽  
Deletion Syndrome ◽  
22Q11.2 Deletion ◽  
Conversational Skills ◽  
Spectrum Disorders ◽  
Over Time

This study investigated three conversational subskills in children with 22q11.2 deletion syndrome (22q11.2DS, n = 8, ages 7–13) and Williams syndrome (WS, n = 8, ages 6–12). The researchers re-evaluated these subskills after 18 to 24 months and compared them to those of peers with idiopathic intellectual disability (IID) and IID and comorbid autism spectrum disorders (IID+ASD). Children with 22q11.2DS became less actively involved over time. Lower assertiveness than in children with IID was demonstrated. They seemed less impaired in terms of accounting for listener’s knowledge than children with IID+ASD. Children with WS showed greater difficulties with discourse management compared to children with IID and 22q11.2DS. They had similar levels of conversational impairments to children with IID+ASD but these were caused by different shortcomings. Over time taking account of listener’s knowledge became challenging for them. Findings suggest that children with 22q11.2DS and those with WS would benefit from conversational skills support and that regular re-evaluation is needed to anticipate conversational challenges.

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