scholarly journals Developmental coordination disorder, psychopathology and IQ in 22q11.2 deletion syndrome

2018 ◽  
Vol 212 (1) ◽  
pp. 27-33 ◽  
Author(s):  
Adam C. Cunningham ◽  
Sue Delport ◽  
Wendy Cumines ◽  
Monica Busse ◽  
David E. J. Linden ◽  
...  
Keyword(s):  
Developmental Coordination Disorder ◽  
Neurodevelopmental Disorder ◽  
22Q11.2 Deletion Syndrome ◽  
Autism Spectrum ◽  
Deletion Syndrome ◽  
Neurocognitive Deficits ◽  
22Q11.2 Deletion ◽  
Hyperactivity Disorder ◽  
History Of ◽  
Coordination Disorder

Background22q11.2 deletion syndrome (22q11.2DS) is associated with high rates of neurodevelopmental disorder, however, the links between developmental coordination disorder (DCD), intellectual function and psychiatric disorder remain unexplored.AimsTo establish the prevalence of indicative DCD in children with 22q11.2DS and examine associations with IQ, neurocognition and psychopathology.MethodNeurocognitive assessments and psychiatric interviews of 70 children with 22q11.2DS (mean age 11.2, s.d. = 2.2) and 32 control siblings (mean age 11.5, s.d. = 2.1) were carried out in their homes. Nine children with 22q11.2DS and indicative DCD were subsequently assessed in an occupational therapy clinic.ResultsIndicative DCD was found in 57 (81.4%) children with 22q11.2DS compared with 2 (6.3%) control siblings (odds ratio (OR) = 36.7,P< 0.001). Eight of nine (89%) children with indicative DCD met DSM-5 criteria for DCD. Poorer coordination was associated with increased numbers of anxiety, (P< 0.001), attention-deficit hyperactivity disorder (ADHD) (P< 0.001) and autism-spectrum disorder (ASD) symptoms (P< 0.001) in children with 22q11.2DS. Furthermore, 100% of children with 22q11.2DS and ADHD had indicative DCD (20 of 20), as did 90% of children with anxiety disorder (17 of 19) and 96% of children who screened positive for ASD (22 of 23). The Developmental Coordination Disorder Questionnaire score was related to sustained attention (P= 0.006), even after history of epileptic fits (P= 0.006) and heart problems (P= 0.009) was taken into account.ConclusionsClinicians should be aware of the high risk of coordination difficulties in children with 22q11.2DS and its association with risk of mental disorder and specific neurocognitive deficits.Declaration of interestNone.

scholarly journals Sleep problems and associations with psychopathology and cognition in young people with 22q11.2 deletion syndrome (22q11.2DS)

2019 ◽  
Vol 50 (7) ◽  
pp. 1191-1202 ◽  
Author(s):  
H. A. Moulding ◽  
U. Bartsch ◽  
J. Hall ◽  
M. W. Jones ◽  
D. E. Linden ◽  
...  
Keyword(s):  
Cognitive Function ◽  
Young People ◽  
Motor Coordination ◽  
Developmental Coordination Disorder ◽  
Sleep Problems ◽  
22Q11.2 Deletion Syndrome ◽  
Autism Spectrum ◽  
Deletion Syndrome ◽  
22Q11.2 Deletion ◽  
Coordination Disorder

AbstractBackgroundYoung people with 22q11.2 deletion syndrome (22q11.2DS) are at high risk for neurodevelopmental disorders. Sleep problems may play a role in this risk but their prevalence, nature and links to psychopathology and cognitive function remain undescribed in this population.MethodSleep problems, psychopathology, developmental coordination and cognitive function were assessed in 140 young people with 22q11.2DS (mean age = 10.1,s.d.= 2.46) and 65 unaffected sibling controls (mean age = 10.8,s.d.SD = 2.26). Primary carers completed questionnaires screening for the children's developmental coordination and autism spectrum disorder.ResultsSleep problems were identified in 60% of young people with 22q11.2DS compared to 23% of sibling controls (OR 5.00,p< 0.001). Two patterns best-described sleep problems in 22q11.2DS: restless sleep and insomnia. Restless sleep was linked to increased ADHD symptoms (OR 1.16,p< 0.001) and impaired executive function (OR 0.975,p= 0.013). Both patterns were associated with elevated symptoms of anxiety disorder (restless sleep: OR 1.10,p= 0.006 and insomnia: OR 1.07,p= 0.045) and developmental coordination disorder (OR 0.968,p= 0.0023, and OR 0.955,p= 0.009). The insomnia pattern was also linked to elevated conduct disorder symptoms (OR 1.53,p= 0.020).ConclusionsClinicians and carers should be aware that sleep problems are common in 22q11.2DS and index psychiatric risk, cognitive deficits and motor coordination problems. Future studies should explore the physiology of sleep and the links with the neurodevelopment in these young people.

scholarly journals Caregivers’ Burden of School-Aged Children with Neurodevelopmental Disorders: Implications for Family-Centred Care

2021 ◽  
Vol 11 (7) ◽  
pp. 875
Author(s):  
Giulia Purpura ◽  
Luca Tagliabue ◽  
Stefania Petri ◽  
Francesco Cerroni ◽  
Andrea Mazzarini ◽  
...  
Keyword(s):  
Caregiver Burden ◽  
Neurodevelopmental Disorders ◽  
Developmental Coordination Disorder ◽  
Neurodevelopmental Disorder ◽  
Psychosocial Problems ◽  
Autism Spectrum ◽  
School Aged Children ◽  
Hyperactivity Disorder ◽  
Burden Scale ◽  
Coordination Disorder

Caregivers of children with neurodevelopmental disorders play a central role during the rehabilitation and education processes, but they have an increasing risk of psychosocial problems even if the literature is not so agreed upon the specific and predisposing factors to that. The aim of this study was to examine possibly differences of burden levels in an Italian sample of principal caregivers of children with different kinds of neurodevelopmental disorders and to investigate the possible links between some clinical and sociodemographic variables and the levels of caregiver’s burden. 105 caregivers of school-aged children with neurodevelopmental disorders were included in the study and completed three online questionnaires (General Questionnaire, Caregiver Burden Inventory, Zarit Caregiver Burden Scale). Results highlighted that about the half of caregivers show from moderate to high levels of stress, but parents of children with Autism Spectrum Disorder and Intellectual Disability show greater difficulties than parents of children with Attention-Deficit Hyperactivity Disorder, Language and/or Learning Disorder, and Developmental Coordination Disorder. Moreover, it was evident a negative correlation between the burden levels and the age of children, but also a direct correlation between the burden levels and the weekly hours of rehabilitation. These findings show that severity of caregiver’s burden is dependent by the type of neurodevelopmental disorder and suggest that an ecological and family-centred approach is necessary to guarantee the life health developmental course of these children.

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 Episodic Behavioural Regression in an 8-Year-Old Female: Sequelae of 22q11.2 Duplication Syndrome

2018 ◽  
Vol 2018 ◽  
pp. 1-3
Author(s):  
A. Bahji ◽  
S. Khalid-Khan
Keyword(s):  
Case Reports ◽  
22Q11.2 Deletion Syndrome ◽  
Autism Spectrum ◽  
Deletion Syndrome ◽  
Medical Illness ◽  
22Q11.2 Deletion ◽  
Genetic Syndrome ◽  
Potential Risk Factors ◽  
22Q11.2 Duplication Syndrome ◽  
Duplication Syndrome

22q11.2 duplication syndrome is a recently discovered genetic syndrome with unclear neuropsychiatric sequelae. While its connection to 22q11.2 deletion syndrome is actively investigated, case reports on the neuropsychiatric sequelae of affected individuals have been previously described, largely focusing on comorbid autism spectrum disorder. Here, we present the case of an 8-year-old female experiencing episodes of severe behavioural regression following medical illness. We analyze the case and relate it to the available literature and identify potential risk factors.

scholarly journals Generalised joint hypermobility and neurodevelopmental traits in a non-clinical adult population

BJPsych Open ◽  
2017 ◽  
Vol 3 (5) ◽  
pp. 236-242 ◽  
Author(s):  
Martin Glans ◽  
Susanne Bejerot ◽  
Mats B. Humble
Keyword(s):  
Developmental Coordination Disorder ◽  
Normal Population ◽  
Adult Population ◽  
Autism Spectrum ◽  
Joint Hypermobility ◽  
Swedish Population ◽  
Hyperactivity Disorder ◽  
Coordination Disorder ◽  
Clinical Populations ◽  
Clinical Cases

BackgroundGeneralised joint hypermobility (GJH) is reportedly overrepresented among clinical cases of attention deficit/hyperactivity disorder (ADHD), autism spectrum disorder (ASD) and developmental coordination disorder (DCD). It is unknown if these associations are dimensional and, therefore, also relevant among non-clinical populations.AimsTo investigate if GJH correlates with sub-syndromal neurodevelopmental symptoms in a normal population.MethodHakim-Grahame's 5-part questionnaire (5PQ) on GJH, neuropsychiatric screening scales measuring ADHD and ASD traits, and a DCD-related question concerning clumsiness were distributed to a non-clinical, adult, Swedish population (n=1039).ResultsIn total, 887 individuals met our entry criteria. We found no associations between GJH and sub-syndromal symptoms of ADHD, ASD or DCD.ConclusionsAlthough GJH is overrepresented in clinical cases with neurodevelopmental disorders, such an association seems absent in a normal population. Thus, if GJH serves as a biomarker cutting across diagnostic boundaries, this association is presumably limited to clinical populations.

scholarly journals Attention Deficit Hyperactivity Disorder Symptoms and Psychosis in 22q11.2 Deletion Syndrome

2017 ◽  
Vol 44 (4) ◽  
pp. 824-833 ◽  
Author(s):  
Maria Niarchou ◽  
Monica E Calkins ◽  
Tyler M Moore ◽  
Sunny X Tang ◽  
Donna M McDonald-McGinn ◽  
...  
Keyword(s):  
Attention Deficit Hyperactivity Disorder ◽  
Attention Deficit ◽  
22Q11.2 Deletion Syndrome ◽  
Deletion Syndrome ◽  
22Q11.2 Deletion ◽  
Hyperactivity Disorder

scholarly journals Chromosome 22q11.2 Deletion Syndrome Presenting as Adult Onset Hypoparathyroidism: Clues to Diagnosis from Dysmorphic Facial Features

2013 ◽  
Vol 2013 ◽  
pp. 1-4 ◽  
Author(s):  
Sira Korpaisarn ◽  
Objoon Trachoo ◽  
Chutintorn Sriphrapradang
Keyword(s):  
Recurrent Infection ◽  
22Q11.2 Deletion Syndrome ◽  
Deletion Syndrome ◽  
Facial Features ◽  
22Q11.2 Deletion ◽  
Chromosome 22Q11.2 ◽  
History Of ◽  
Chromosome 22Q11.2 Deletion Syndrome

We report a 26-year-old Thai man who presented with hypoparathyroidism in adulthood. He had no history of cardiac disease and recurrent infection. His subtle dysmorphic facial features and mild intellectual impairment were suspected for chromosome 22q11.2 deletion syndrome. The diagnosis was confirmed by fluorescence in situ hybridization, which found microdeletion in 22q11.2 region. The characteristic facial appearance can lead to clinical suspicion of this syndrome. The case report emphasizes that this syndrome is not uncommon and presents as a remarkable variability in the severity and extent of expression. Accurate diagnosis is important for genetic counseling and long-term health supervision by multidisciplinary team.

Differentiated psychopharmacological treatment in three genetic subtypes of 22q11.2 deletion syndrome

2017 ◽  
Vol 41 (S1) ◽  
pp. S388-S389
Author(s):  
W.M.A. Verhoeven ◽  
J.I.M. Egger ◽  
N. de Leeuw
Keyword(s):  
Heart Defects ◽  
22Q11.2 Deletion Syndrome ◽  
Autism Spectrum ◽  
Pharmacological Intervention ◽  
Deletion Syndrome ◽  
22Q11.2 Deletion ◽  
Conventional Antipsychotics ◽  
Genetic Subtypes ◽  
The Common ◽  
Common Deletion

IntroductionThe 22q11.2 deletion syndrome (22q11DS), mostly caused by the common deletion including the TBX- and COMT-genes (LCR22A-D), is highly associated with somatic anomalies. The distal deletion (distal of LCR22D) comprises the MAPK1-gene and is associated with specific heart defects. The rare central deletion (LCR22B-D) encompasses the CRKL-gene and shows predominantly urogenital anomalies. 22q11DS also differs in its neuropsychiatric profile: common deletion accompanied by schizophrenia-like psychoses and autism spectrum disorders, distal deletion by anxiety disorders, and central deletion by autistic-like behaviours.ObjectivesInvestigating genetic subtypes of 22q11DS.AimsAchieving a targeted pharmacological treatment based on genetic sub-typing.MethodsThirty-two patients with genetically proven 22q11DS, referred for detailed neuropsychiatric analysis.ResultsApart from two patients with distal deletion and one with central deletion, common 22q11.2 deletion was detected in 29 patients. Those with the common deletion were typified by a history of relapsing schizophrenia-like psychoses and partial non-response to conventional antipsychotics. In most patients, anxieties and mood instability were also manifest. The two patients with a distal deletion predominantly showed anxiety symptoms, while the behaviour of the patient with a central deletion was characterized by symptoms from the autism spectrum. Most patients with a common deletion could successfully be treated with clozapine or quetiapine, often combined with valproic acid. One patient with a distal deletion showed full remission upon treatment with citalopram (the second refused such a pharmacological intervention). The behaviour of the patient with central deletion improved upon contextual measures only.ConclusionsThe genetic subtype of 22q11DS enables targeting of treatment strategy.Disclosure of interestThe authors have not supplied their declaration of competing interest.

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