scholarly journals Treatment with levetiracetam in a patient with pervasive developmental disorders, severe intellectual disability, self-injurious behavior, and seizures: A case report

Neurocase ◽  
2012 ◽  
Vol 18 (5) ◽  
pp. 386-391 ◽  
Author(s):  
N. Deriaz ◽  
J. P. Willi ◽  
M. Orihuela-Flores ◽  
G. Galli Carminati ◽  
O. Ratib
Keyword(s):  
Case Report ◽  
Intellectual Disability ◽  
Pervasive Developmental Disorders ◽  
Developmental Disorders ◽  
Severe Intellectual Disability

RHOBTB2 p.Arg511Trp Mutation in Early Infantile Epileptic Encephalopathy-64: Review and Case Report

2021 ◽  
Author(s):  
J Fonseca ◽  
C Melo ◽  
C Ferreira ◽  
M Sampaio ◽  
R Sousa ◽  
...  
Keyword(s):  
Case Report ◽  
Intellectual Disability ◽  
Status Epilepticus ◽  
Exome Sequencing ◽  
Whole Exome Sequencing ◽  
Epileptic Encephalopathy ◽  
Btb Domain ◽  
Pathogenic Variants ◽  
Severe Intellectual Disability ◽  
Whole Exome

AbstractEarly infantile epileptic encephalopathy-64 (EIEE 64), also called RHOBTB2-related developmental and epileptic encephalopathy (DEE), is caused by heterozygous pathogenic variants (EIEE 64; MIM#618004) in the Rho-related BTB domain-containing protein 2 (RHOBTB2) gene. To date, only 13 cases with RHOBTB2-related DEE have been reported. We add to the literature the 14th case of EIEE 64, identified by whole exome sequencing, caused by a heterozygous pathogenic variant in RHOBTB2 (c.1531C > T), p.Arg511Trp. This additional case supports the main features of RHOBTB2-related DEE: infantile-onset seizures, severe intellectual disability, impaired motor functions, postnatal microcephaly, recurrent status epilepticus, and hemiparesis after seizures.

Refractory Self-Injurious Behavior in Severe Intellectual Disability Responsive to Topiramate: A Case Report

2017 ◽  
Vol 58 (2) ◽  
pp. 209-212 ◽  
Author(s):  
Brandon Hamm ◽  
Naveed Khokhar ◽  
Xavier F. Jimenez
Keyword(s):  
Case Report ◽  
Intellectual Disability ◽  
Severe Intellectual Disability

Intellectual disability

2019 ◽  
pp. 785-838
Author(s):  
David Semple ◽  
Roger Smyth
Keyword(s):  
Intellectual Disability ◽  
Intellectual Disabilities ◽  
Pervasive Developmental Disorders ◽  
Developmental Disorders ◽  
Historical Context ◽  
Psychiatric Comorbidities ◽  
Treatment Methods ◽  
Different Types ◽  
Modern Classification ◽  
Potential Methods

This chapter covers intellectual disabilities. It provides a historical context and modern classification, before covering assessment, communication pathways, and management or treatment methods. Different types of intellectual disability, both genetic and non-genetic and pervasive developmental disorders, are covered in turn, and psychiatric comorbidities are also considered. The issues affecting transition periods are outlined, along with potential methods of alleviating stress.

scholarly journals Intellectual disability and other neuropsychiatric outcomes in high-risk children of mothers with schizophrenia, bipolar disorder and unipolar major depression

2012 ◽  
Vol 200 (4) ◽  
pp. 282-289 ◽  
Author(s):  
Vera A. Morgan ◽  
Maxine L. Croft ◽  
Giulietta M. Valuri ◽  
Stephen R. Zubrick ◽  
Carol Bower ◽  
...  
Keyword(s):  
Bipolar Disorder ◽  
Intellectual Disability ◽  
Major Depression ◽  
Pervasive Developmental Disorders ◽  
Developmental Disorders ◽  
Unipolar Depression ◽  
Neuropsychiatric Disorders ◽  
Increased Risk ◽  
Obstetric Factors ◽  
Unipolar Major Depression

BackgroundRecent evidence points to partially shared genetics of neuropsychiatric disorders.AimsWe examined risk of intellectual disability and other neuropsychiatric outcomes in 3174 children of mothers with schizophrenia, bipolar disorder or unipolar major depression compared with 3129 children of unaffected mothers.MethodWe used record linkage across Western Australian population-based registers. The contribution of obstetric factors to risk of intellectual disability was assessed.ResultsChildren were at significantly increased risk of intellectual disability with odds ratios (ORs) of 3.2 (95% CI 1.8–5.7), 3.1 (95% CI 1.9–4.9) and 2.9 (95% CI 1.8–4.7) in the maternal schizophrenia, bipolar disorder and unipolar depression groups respectively. Multivariate analysis suggests familial and obstetric factors may contribute independently to the risk. Although summated labour/delivery complications (OR = 1.4, 95% CI 1.0–2.0) just failed to reach significance, neonatal encephalopathy (OR = 7.7, 95% CI 3.0–20.2) and fetal distress (OR = 1.8, 95% CI 1.1–2.7) were independent significant predictors. Rates of rare syndromes in children of mothers with mental disorder were well above population rates. Risk of pervasive developmental disorders, including autism, was significantly elevated for children of mothers with bipolar disorder. Risk of epilepsy was doubled for children of mothers with unipolar depression.ConclusionsOur findings provide epidemiological support for clustering of neuropsychiatric disorders. Further larger epidemiological studies are warranted.

scholarly journals Melatonin in Treatment of Chronic Sleep Disorders in Adults with Pervasive Development Disorders: A Retrospective Study

2009 ◽  
Vol 24 (S1) ◽  
pp. 1-1
Author(s):  
N. Deriaz ◽  
G. Galli-Carminati ◽  
G. Bertschy
Keyword(s):  
Intellectual Disability ◽  
Sleep Disorders ◽  
Pervasive Developmental Disorders ◽  
Sleep Disturbances ◽  
Developmental Disorders ◽  
Sleep Onset ◽  
Sleep Time ◽  
Sleep Onset Latency ◽  
Safe Alternative ◽  
Pervasive Development Disorders

Background:Melatonin may be used to treat sleep disorders in both children and adults with intellectual disability. the evidence for its efficacy, potential adverse effects and drug interactions are reviewed in the context of prescribing to people with intellectual disability.Methods:This study presents the use of melatonin to treat severe circadian sleep-wake disturbances in 6 adults with pervasive developmental disorders. Melatonin was initiated at a daily dose of 3 mg at nocturnal bedtime. If this proved ineffective, the melatonin dose was titrated over the following 4 weeks at increments of 3mg/2weeks up to a maximum of 9 mg, unless it was tolerated. Assessments included the Clinical Global Impression-Severity (CGI-S) and CGI-Improvement (CGI-I).Results:Melatonin administered in the evening dramatically improved the sleep-wake pattern in all patients. Melatonin appears to be effective in reducing sleep onset latency and is probably effective in improving nocturnal awakenings and total sleep time in adults with pervasive developmental disorders. Its effectiveness remained stable for the 6-months period of administration. Melatonin was well-tolerated in all patients and no side effects were noted during the therapy.Conclusions:Melatonin appears to be promising as an efficient and seemingly safe alternative for treatment of severe circadian sleep disturbances in adults with intellectual disability. There may be heterogeneity of response depending on the nature of the sleep problem and cause of the intellectual disability or associated disabilities. Further studies are necessary before firm conclusions can be drawn and guidelines for the use of melatonin for people with ID formulated.

scholarly journals Tatton-Brown-Rahman syndrome with a novel DNMT3A mutation presented severe intellectual disability and autism spectrum disorder

2020 ◽  
Vol 7 (1) ◽  
Author(s):  
Takayuki Yokoi ◽  
Yumi Enomoto ◽  
Takuya Naruto ◽  
Kenji Kurosawa ◽  
Norimichi Higurashi
Keyword(s):  
Autism Spectrum Disorder ◽  
Intellectual Disability ◽  
Developmental Disorders ◽  
De Novo ◽  
Autism Spectrum ◽  
Spectrum Disorder ◽  
De Novo Mutation ◽  
Facial Features ◽  
Severe Intellectual Disability ◽  
Dominant Disease

AbstractTatton-Brown-Rahman syndrome is a congenital anomaly syndrome that manifests with overgrowth, macrocephaly, and characteristic facial features. This autosomal dominant disease is caused by a germline mutation in DNMT3A. Some patients with this syndrome develop mild to severe intellectual disability, which is sometimes accompanied by autism spectrum disorder or other developmental disorders. We report a Japanese patient with severe intellectual disability and autism spectrum disorder with a de novo mutation in the active domain of DNMT3A.

scholarly journals EEG and MRI findings and their relation with intellectual disability in pervasive developmental disorders

2009 ◽  
Vol 5 (3) ◽  
pp. 196-200 ◽  
Author(s):  
Özlem Ünal ◽  
Özlem Özcan ◽  
Özgür Öner ◽  
Melda Akcakin ◽  
Ayla Aysev ◽  
...  
Keyword(s):  
Intellectual Disability ◽  
Pervasive Developmental Disorders ◽  
Developmental Disorders ◽  
Mri Findings

scholarly journals Severe intellectual disability, omphalocele, hypospadia and high blood pressure associated to a deletion at 2q22.1q22.3: case report

2012 ◽  
Vol 5 (1) ◽  
Author(s):  
Milene Vianna Mulatinho ◽  
Cassio Luiz de Carvalho Serao ◽  
Fernanda Scalco ◽  
David Hardekopf ◽  
Sona Pekova ◽  
...  
Keyword(s):  
Blood Pressure ◽  
Case Report ◽  
Intellectual Disability ◽  
High Blood Pressure ◽  
Severe Intellectual Disability

scholarly journals Management of dental avulsion in a child with severe intellectual disability: Case report

2017 ◽  
Vol 54 (2) ◽  
pp. 213-216
Author(s):  
Ashwin Rao ◽  
Vignesh Palanisamy ◽  
Arathi Rao
Keyword(s):  
Case Report ◽  
Intellectual Disability ◽  
Severe Intellectual Disability ◽  
Dental Avulsion
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