Perspectives actuelles dans la microdélétion 22q11.2 : prise en charge du phénotype neurocomportemental

Demily, Caroline; Rossi, Massimiliano; Schneider, Maude; Edery, Patrick; Leleu, Arnaud; d’Amato, Thierry; Franck, Nicolás; Eliez, Stéphan

doi:10.1016/j.encep.2014.10.005

Cited by 12 publications

(4 citation statements)

References 41 publications

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“…Swillen et al, 1997;Campbell, McCabe, Melville, Strutt, & Schall, 2015). Underlying social-cognitive deficits are assumed to be a precipitating factor for these limitations and socio-cognitive remediation is suggested for enhancing sociocommunicative skills and overall quality of life (Demily et al, 2015;Swillen & McDonald-McGinn, 2015). However, (longitudinal) research is needed to delineate the most effective management for individuals with 22q11.2DS in different stages of life.…”

Section: Discussionmentioning

confidence: 99%

Referential communication abilities in children with 22q11.2 deletion syndrome

Heuvel

Reuterskiöld

Solot

et al. 2016

International Journal of Speech-Language Pathology

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Section: Discussionmentioning

confidence: 99%

Referential communication abilities in children with 22q11.2 deletion syndrome

Heuvel

Reuterskiöld

Solot

et al. 2016

International Journal of Speech-Language Pathology

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“…In persons with fragile X syndrome, the same measure has been found to be related to excessive displays of anxiety, which involve stereotypical movement and repetitive self-injurious behaviour (Woodcock et al 2009a(Woodcock et al , 2009bWoodcock et al 2010;Woodcock et al 2011). Demily et al (2014) found that the 22q11.2 deletion syndrome, which is characterised by difficulties in sustaining attention, executive function, memory and visualspatial perception, not only presents a high rate of bipolar disorder and major depression, especially in adolescence and young adulthood, but also anxiety disorders and schizophrenia in adulthood (Gothelf et al 2008;Santambrogio et al 2020). Zarchi et al (2014 compared the neuropsychiatric and neurocognitive phenotypes of this syndrome with those of Williams syndrome, which also has a lower Performance-IQ than Verbal-IQ but shows more severe impairment of visuospatial functions.…”

Section: Introductionmentioning

confidence: 99%

“…Demily et al . (2014) found that the 22q11.2 deletion syndrome, which is characterised by difficulties in sustaining attention, executive function, memory and visualspatial perception, not only presents a high rate of bipolar disorder and major depression, especially in adolescence and young adulthood, but also anxiety disorders and schizophrenia in adulthood (Gothelf et al . 2008; Santambrogio et al .…”

Section: Introductionmentioning

confidence: 99%

Cognitive dysfunction and psychopathology: a cohort study of adults with intellectual developmental disorder

Santambrogio,

Bertelli,

Terrevazzi

et al. 2023

J intellect Disabil Res

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BackgroundCognitive impairment of intellectual developmental disorders (IDD) is determined by several different combinations of specific cognitive alterations. People with IDD present a rate of mental health problems that is up to 4 times higher than that of the general population. Despite this, the relationship between specific cognitive dysfunctions and co‐occurring mental disorders has not been adequately studied. The aim of the present paper is to investigate the association between specific cognitive dysfunctions and specific psychiatric symptoms and syndromes in people with IDD.MethodsOne hundred and twenty adults with mild to moderate IDD living in residential facilities underwent a clinical and instrumental assessment for specific cognitive and psychopathological features.ResultsParticipants with IDD and ASD have significantly lower scores compared to those without respect to who has not the diagnosis on the Processing Speed Index (PSI) and Perceptual Reasoning Index (PRI) on the WAIS‐IV and higher time scores on the TMT A. Moreover, there is a significant association between years of hospitalisation and TMT B and TMT B A time scores; the longer a participant with IDD was hospitalised, the worse their performance on the TMT. Although not statistically significant, many psychopathological clusters showed substantial cognitive profiles.ConclusionsAlthough further research is needed, neuropsychological and IQ tests scores seem to be differently associated to various psychopathological conditions co‐occurring with IDD, and with ASD especially. Cognitive assessment seems to support diagnosis and treatment of psychopathological co‐occurrences in persons with IDD, also in consideration of indirect implications including a better knowledge of the patient's characteristics beyond IQ deficit.

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“… 3–6 The majority of cases result from heterozygous chromosomal deletion in the above-mentioned region. The size of the deleted chromosomal region has been reported in different series to be around 0.7–3 million base pairs 7 As a result of this deletion, several genes are lost, including HIRA protein (HIRA), T-box 1 protein (TBX1), Catechol-O-methyltransferase (COMT), and Recombinant Human Crkl (CRKL). 8–10 These genes are related to the formation and development of the pharyngeal arches (PA) and the migration of neural crest cells; for that reason, the genetic disruption of these genes alters various structures, resulting in conditions such as conotruncal cardiac anomalies, thymus hypoplasia, hypocalcemia resulting from lack of development of the parathyroid glands, cognitive deficits, frequent infections, and autoimmune disorders.…”

Section: Introductionmentioning

confidence: 99%

The Oral Health of Patients with DiGeorge Syndrome (22q11) Microdeletion: A Case Report

Candelo¹,

Estrada-Mesa²,

Jaramillo³

et al. 2021

TACG

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Background DiGeorge syndrome (DG) is a genetic disorder associated with 22q11 deletion. It involves various phenotypes, including craniofacial abnormalities, congenital heart disorders, endocrine dysfunction, cognitive deficits, and psychiatric disorders. Cases commonly involve multiple anomalies. However, little is known about the condition of the oral cavity in this disorder, although palate fissure, abnormal mandible, malocclusion, and tooth hypoplasia have been identified. We aimed to determine the odontological features of patients with 22q11.2 microdeletion, in relation to gingival health and oral hygiene. We report the systemic manifestations of nine patients and results of oral evaluation of two patients. In the oral examination, oral hygiene and gingivitis were evaluated. Case Presentation In terms of the systemic manifestations, we found high frequencies of low weight and height at birth. In terms of the oral manifestations, both examined patients presented malocclusion, enamel hypoplasia, dental crowding, anodontia, and healthy periodontium. Conclusion Although DG has been documented to involve periodontium disease, the patients in this study exhibited more dental manifestations such as enamel defects, misalignment between the teeth and the two dental arches, anodontia, and dental crowding. As such, a multidisciplinary approach combining dentistry and healthcare is recommended in this case.

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Perspectives actuelles dans la microdélétion 22q11.2 : prise en charge du phénotype neurocomportemental

Abstract: Required pharmacological treatment strategies have to be adapted to the syndrome. Moreover, cognitive remediation is a promising tool for treating neuro- and social cognitive deficits in 22q11.2DS. However, these new therapeutic strategies have to be developed to improve quality of life.

Cited by 12 publications

References 41 publications

Referential communication abilities in children with 22q11.2 deletion syndrome

Referential communication abilities in children with 22q11.2 deletion syndrome

Cognitive dysfunction and psychopathology: a cohort study of adults with intellectual developmental disorder

The Oral Health of Patients with DiGeorge Syndrome (22q11) Microdeletion: A Case Report

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