Schizophrenia Spectrum Disorders in a Danish 22q11.2 Deletion Syndrome Cohort Compared to the Total Danish Population—A Nationwide Register Study

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.

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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

10.21203/rs.3.rs-506720/v1 ◽

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.

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

Journal of Autism and Developmental Disorders ◽

10.1007/s10803-005-5036-9 ◽

2005 ◽

Vol 35 (4) ◽

pp. 461-470 ◽

Cited By ~ 150

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

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

European Psychiatry ◽

10.1016/j.eurpsy.2013.06.002 ◽

2013 ◽

Vol 28 (7) ◽

pp. 417-422 ◽

Cited By ~ 5

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.

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

First Language ◽

10.1177/0142723717713890 ◽

2017 ◽

Vol 37 (6) ◽

pp. 583-611 ◽

Cited By ~ 2

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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Surgical Management of Patients With 22q11.2 Deletion Syndrome

Perspectives of the ASHA Special Interest Groups ◽

10.1044/2019_pers-sig5-2019-0004 ◽

2019 ◽

Vol 4 (5) ◽

pp. 857-869

Author(s):

Oksana A. Jackson ◽

Alison E. Kaye

Keyword(s):

Surgical Management ◽

Preoperative Evaluation ◽

Preoperative Assessment ◽

22Q11.2 Deletion Syndrome ◽

Deletion Syndrome ◽

22Q11.2 Deletion ◽

Surgical Decision ◽

Obstructive Sleep ◽

Spine Abnormalities ◽

Speech Assessment

Purpose The purpose of this tutorial was to describe the surgical management of palate-related abnormalities associated with 22q11.2 deletion syndrome. Craniofacial differences in 22q11.2 deletion syndrome may include overt or occult clefting of the palate and/or lip along with oropharyngeal variances that may lead to velopharyngeal dysfunction. This chapter will describe these circumstances, including incidence, diagnosis, and indications for surgical intervention. Speech assessment and imaging of the velopharyngeal system will be discussed as it relates to preoperative evaluation and surgical decision making. Important for patients with 22q11.2 deletion syndrome is appropriate preoperative screening to assess for internal carotid artery positioning, cervical spine abnormalities, and obstructive sleep apnea. Timing of surgery as well as different techniques, common complications, and outcomes will also be discussed. Conclusion Management of velopharyngeal dysfunction in patients with 22q11.2 deletion syndrome is challenging and requires thoughtful preoperative assessment and planning as well as a careful surgical technique.

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Psychosocial Risks and Management for Children and Adolescents With 22q11.2 Deletion Syndrome

Perspectives of the ASHA Special Interest Groups ◽

10.1044/2019_pers-sig5-2019-0002 ◽

2019 ◽

Vol 4 (4) ◽

pp. 633-640 ◽

Cited By ~ 1

Author(s):

Canice E. Crerand ◽

Ari N. Rabkin

Keyword(s):

Cognitive Abilities ◽

Psychotic Disorders ◽

Developmental Stages ◽

Early Adulthood ◽

22Q11.2 Deletion Syndrome ◽

Deletion Syndrome ◽

22Q11.2 Deletion ◽

Psychosocial Risks ◽

Empirically Supported ◽

Specific Education

Purpose This article reviews the psychosocial risks associated with 22q11.2 deletion syndrome, a relatively common genetic condition associated with a range of physical and psychiatric problems. Risks associated with developmental stages from infancy through adolescence and early adulthood are described, including developmental, learning, and intellectual disabilities as well as psychiatric disorders including anxiety, mood, and psychotic disorders. Other risks related to coping with health problems and related treatments are also detailed for both affected individuals and their families. Conclusion The article ends with strategies for addressing psychosocial risks including provision of condition-specific education, enhancement of social support, routine assessment of cognitive abilities, regular mental health screening, and referrals for empirically supported psychiatric and psychological treatments.

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Screening Adolescents for Schizophrenia-Spectrum Disorders

PsycEXTRA Dataset ◽

10.1037/e329422004-010 ◽

2000 ◽

Author(s):

B. Cornblatt ◽

M. Obuchowski ◽

S. Roberts ◽

S. Pollack ◽

L. Erienmeyer-Kimling

Keyword(s):

Schizophrenia Spectrum Disorders ◽

Schizophrenia Spectrum ◽

Spectrum Disorders

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