Asperger Syndrome, Obsessive-Compulsive Disorder, and Major Depression in a Patient with 45,X/46,XY Mosaicism

Fontenelle, Leonardo F.; Mendlowicz, Mauro V.; Menezes, Gabriela Bezerra de; Martins, Rosa; Versiani, Márcio

doi:10.1159/000078608

Cited by 22 publications

(9 citation statements)

References 25 publications

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“…There have been at least eight other cases with similar karyotypes and behavioral–cognitive phenotypes that included intellectual disabilities and developmental delays [El Abd et al, 1999]. In another case report, a patient with Asperger syndrome, OCD and major depression was discovered to have 45X/46XY mosaicism [Fontenelle, Mendlowicz, Bezerra de Menezes, dos Santos Martins, & Versiani, 2004]. An earlier study [Telvi, Lebbar, Del Pino, Barbet, & Chaussain, 1999] reported that 2 (7%) patients were diagnosed with ASD in a sample of 27 patients with 45X/46XY mosaicism, but the nature and severity of OCB were not assessed.…”

Section: Structural Variant Disorders Associated With Both Asd and Ocbmentioning

confidence: 99%

Autism spectrum and obsessive–compulsive disorders: OC behaviors, phenotypes and genetics

Jacob

Landeros-Weisenberger

Leckman

2009

Autism Research

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Autism spectrum disorders (ASDs) are a phenotypically and etiologically heterogeneous set of disorders that include obsessive–compulsive behaviors (OCB) that partially overlap with symptoms associated with obsessive–compulsive disorder (OCD). The OCB seen in ASD vary depending on the individual’s mental and chronological age as well as the etiology of their ASD. Although progress has been made in the measurement of the OCB associated with ASD, more work is needed including the potential identification of heritable endophenotypes. Likewise, important progress toward the understanding of genetic influences in ASD has been made by greater refinement of relevant phenotypes using a broad range of study designs, including twin and family-genetic studies, parametric and nonparametric linkage analyses, as well as candidate gene studies and the study of rare genetic variants. These genetic analyses could lead to the refinement of the OCB phenotypes as larger samples are studied and specific associations are replicated. Like ASD, OCB are likely to prove to be multidimensional and polygenic. Some of the vulnerability genes may prove to be generalist genes influencing the phenotypic expression of both ASD and OCD while others will be specific to subcomponents of the ASD phenotype. In order to discover molecular and genetic mechanisms, collaborative approaches need to generate shared samples, resources, novel genomic technologies, as well as more refined phenotypes and innovative statistical approaches. There is a growing need to identify the range of molecular pathways involved in OCB related to ASD in order to develop novel treatment interventions.

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Section: Structural Variant Disorders Associated With Both Asd and Ocbmentioning

confidence: 99%

Autism spectrum and obsessive–compulsive disorders: OC behaviors, phenotypes and genetics

Jacob

Landeros-Weisenberger

Leckman

2009

Autism Research

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“…One case report describes a patient with AS, chromosomal aberration, and OCD who was successfully treated with ECT for a major depression, but it does not give specific information on how the OCD symptoms were influenced by ECT. 7 A retrospective study showed efficacy for OCD symptoms both in depressed and nondepressed patient groups. 2 There is also 1 case series report and several case reports on ECT for OCD with varying comorbidity.…”

Section: Discussionmentioning

confidence: 99%

“…Regarding the use of ECT for the treatment of comorbid disorders in AS, there are only a few reports published and, to our knowledge, none that describes specific effect on OCD-like symptoms. 6,7 Here we present a successful case of ECT for prolonged and severely disabling obsessive-compulsive symptoms with hypochondriacal features in a patient with AS.…”

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confidence: 99%

Acute and Maintenance Electroconvulsive Therapy for Treatment of Severely Disabling Obsessive-Compulsive Symptoms in a Patient With Asperger Syndrome

Nilsson

Ekselius²

2009

The Journal of ECT

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We report successful treatment with electroconvulsive therapy of a comorbid condition including severe obsessive-compulsive symptoms and hypochondriacal delusions in a 38-year-old man with Asperger syndrome. His condition deteriorated into a severely disabled chronic state that was refractory to different pharmacological and psychological treatments but was completely reversed after electroconvulsive therapy. Although typical obsessive-compulsive symptoms were predominant, the case also exhibits differences compared with regular obsessive-compulsive disorder regarding onset and course that are discussed in the report.

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“…Por outro lado, estudos sobre a ocorrência familiar do transtorno são praticamente inexistentes no país, assim como são escassas as pesquisas de cunho epidemiológi-co. Dessas últimas, apenas dois estudos epidemiológicos foram divulgados até o momento 33,34 . Já os trabalhos que focam outras áreas, como diagnóstico, marcadores neurogenéticos, aspectos psicossociais, entre outros, são mais frequentes 28,[35][36][37][38][39][40][41][42][43][44] . Assim, avaliações diagnósticas desse tipo, realizadas pelas equipes de saúde, poderiam ser ampliadas para familiares de primeiro grau.…”

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Rastreamento de sinais e sintomas de transtornos do espectro do autismo em irmãos

Mecca

Bravo

Velloso

et al. 2011

Rev. psiquiatr. Rio Gd. Sul

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ResumoOs transtornos globais do desenvolvimento (TGD) são caracterizados por anormalidades qualitativas e abrangentes em três domínios do desenvolvimento: interação social recíproca, comunicação e presença de um repertório comportamental de interesses restritos, repetitivo e estereotipado. Estudos genéticos têm identificado a recorrência de TGD numa mesma família. O presente estudo teve por objetivo rastrear a ocorrência de sinais e sintomas de TGD em irmãos de indivíduos com esse diagnóstico. Participaram do estudo 25 sujeitos provenientes de 19 famílias. A coleta de dados foi realizada mediante a utilização da versão brasileira do Autism Screening Questionnaire (ASQ), ou Questionário de Comportamento e Comunicação Social. Foram confirmados dois casos de irmãos com TGD (10,52% dos casos), sendo um irmão gêmeo monozigótico e um irmão de um probando com diagnóstico de síndrome de Asperger. Os dados apontam para taxas mais elevadas do que aquelas descritas na literatura (2-6%) e se aproximam dos achados que relatam 10% de recorrência familiar em gêmeos dizigóticos. Esse resultado fornece evidências de possíveis fatores neurogenéticos para explicar a ocorrência de TGD nos familiares dos probandos estudados e salienta a necessidade de efetuar o rastreamento desse transtorno não só na criança avaliada, mas também em seus irmãos. Descritores: Irmãos, genética, transtornos do espectro do autismo. AbstractPervasive developmental disorders (PDD) are characterized by comprehensive and qualitative abnormalities affecting three areas of development: reciprocal social interaction, communication, and a repetitive, stereotyped behavioral repertoire, of limited interests. Genetic studies have identified the recurrence of PDD in the same family. The present study aimed to trace the occurrence of signs and symptoms of PDD in the siblings of patients with this diagnosis. The study included 25 subjects from 19 families. Data collection was performed using the Brazilian version of the Autism Screening Questionnaire (ASQ). Two cases of PDD in siblings were confirmed (10.52% of cases): a monozygotic twin brother and the brother of a proband with a diagnosis of Asperger syndrome. Our data indicate higher rates of PDD in siblings than described in the literature (2-6%), close to the findings that suggest a 10% rate of familial recurrence in dizygotic twins. This result provides evidence of possible neurogenetic factors to explain the occurrence of PDD in relatives of the probands assessed and underscores the need to screen not only the child under evaluation, but also their siblings.

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Asperger Syndrome, Obsessive-Compulsive Disorder, and Major Depression in a Patient with 45,X/46,XY Mosaicism

Cited by 22 publications

References 25 publications

Autism spectrum and obsessive–compulsive disorders: OC behaviors, phenotypes and genetics

Autism spectrum and obsessive–compulsive disorders: OC behaviors, phenotypes and genetics

Acute and Maintenance Electroconvulsive Therapy for Treatment of Severely Disabling Obsessive-Compulsive Symptoms in a Patient With Asperger Syndrome

Rastreamento de sinais e sintomas de transtornos do espectro do autismo em irmãos

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