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1.
Psychiatr Danub ; 31(Suppl 3): 455-461, 2019 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-31488772

RESUMO

Complex disability is very difficult to manage. It usually subtends very serious clinical pictures, because it affect several body systems, or because it is associated with intellectual disability and behavioral disorders. Often affected patients are unable to communicate their basic needs. All these factors combine to make the management of these patients very complex, and those who care for them realize how important it is to find a way to detect their state and to identify their potential capabilities. Developing appropriate rehabilitation programs for these patients requires additional effort and an assessment capacity that is as objective as possible. Few scales cited in the literature are capable of evaluating these aspects in patients with complex disabilities, among them the Barthel Index (Mahoney & Barthel 1965) and the Vineland Adaptive Behavior scale II (Sparrow et al. 2005). The majority of these scales often tend to depict the data regarding the disease to a degree of severity that precludes adequate individual rehabilitation program development. There is a dire need for a more appropriate instrument, an observational grid that is capable of identifying the potential of this patient population and evaluate the effectiveness of rehabilitation interventions provided. The aim of the study is to evaluate the efficacy of rehabilitation interventions in a group of patients with IQ <32 (determined by the Vineland II scale) using an evaluation tool created ad hoc called D-Rubrics, designed with the intent to identify "micro-differences" between baseline (T0) and post-rehabilitation (T1). The goal is part of a more long term-term objective which involves developing an effective assessment tool for patients with complex disabilities. Such an assessment tool should be practical, easy to administer and useful in both clinical and research settings.


Assuntos
Transtornos do Neurodesenvolvimento/reabilitação , Reabilitação/normas , Humanos , Deficiência Intelectual/complicações , Deficiência Intelectual/reabilitação , Transtornos do Neurodesenvolvimento/complicações , Avaliação de Resultados (Cuidados de Saúde)
2.
Cytogenet Genome Res ; 158(4): 192-198, 2019.
Artigo em Inglês | MEDLINE | ID: mdl-31394532

RESUMO

Prader-Willi syndrome (PWS) and recurrent 15q13.3 microdeletion syndrome can be caused by genomic rearrangements in the complex 15q11q13 chromosomal region. Here, we describe the first female child with PWS and 15q13.3 microdeletion syndrome resulting from an unusual 10.7-Mb deletion from 15pter to 15q13.3 due to an unbalanced de novo 15;19 translocation. The patient presents with hypotonia, microcephaly, developmental delay with lack of speech, intellectual disability, happy demeanor, clinodactyly of the 4th and 5th fingers, and dysmorphic facial features discordant for PWS and consistent with an atypical phenotype.


Assuntos
Transtornos Cromossômicos/complicações , Transtornos Cromossômicos/genética , Deficiência Intelectual/complicações , Deficiência Intelectual/genética , Síndrome de Prader-Willi/complicações , Síndrome de Prader-Willi/genética , Convulsões/complicações , Convulsões/genética , Translocação Genética/genética , Pré-Escolar , Deleção Cromossômica , Cromossomos Humanos Par 15/genética , Feminino , Humanos , Recém-Nascido
3.
J Appl Oral Sci ; 27: e20180564, 2019 Jul 29.
Artigo em Inglês | MEDLINE | ID: mdl-31365710

RESUMO

OBJECTIVE: Studies on the oral health of individuals with intellectual disability (ID) have identified problems that include a high prevalence of periodontal disease. The use of probiotics to treat periodontal disease has been the focus of considerable research, and bovine milk fermented with Lactobacillus rhamnosus L8020 (L8020 yogurt) has been shown to reduce the oral prevalence of four periodontal pathogens. The aim of this randomized, double-blind, placebo-controlled trial was to compare the effects of L8020 yogurt (test group) with those of placebo yogurt (placebo group) on the papillary-marginal-attached (PMA) index, gingival index (GI), and probing depth (PD) in 23 individuals with ID. METHODOLOGY: All patients were required to consume the allocated yogurt after breakfast for 90 days. PMA index and GI scores as well as PDs were assessed before the start of yogurt consumption (baseline), after 45 and 90 days of consumption, and 30 days after the cessation of consumption. Student's t-test, Mann-Whitney U test or Fisher's exact test was used for inter-group comparisons, and the mixed effect model of repeated measurements was used for data analysis. RESULTS: The decrease in PMA index score was significantly greater in the test group than in the placebo group (p<0.001). The GI score also decreased during the study, with a tendency for greater decrease in the test group. Furthermore, decreases in PD between baseline, 45 and 90 days tended to be greater in the test group than in the placebo group. CONCLUSION: These results suggest that regular consumption of bovine milk fermented with L. rhamnosus L8020 can lower the risk of periodontal disease in individuals with ID.


Assuntos
Deficiência Intelectual/fisiopatologia , Lactobacillus rhamnosus , Leite , Doenças Periodontais/prevenção & controle , Iogurte , Adulto , Animais , Método Duplo-Cego , Feminino , Humanos , Deficiência Intelectual/complicações , Masculino , Pessoa de Meia-Idade , Doenças Periodontais/patologia , Índice Periodontal , Valores de Referência , Reprodutibilidade dos Testes , Fatores de Risco , Estatísticas não Paramétricas , Fatores de Tempo , Resultado do Tratamento , Adulto Jovem
4.
Postgrad Med ; 131(7): 445-452, 2019 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-31443616

RESUMO

Given the complexity of neurocutaneous syndromes, a multidisciplinary approach has been advocated in order to provide optimum care. Subjects and Methods: Retrospective analysis of a cohort of 157 patients during a 3-year period, seen at a newly developed neurocutaneous clinic in a pediatric tertiary care hospital in Athens (Greece); and systematic chart review of the patients diagnosed with neurofibromatosis type 1 during this time period. Results: The most frequent neurocutaneous syndromes were neurofibromatosis type 1 (NF1) in 89 patients and tuberous sclerosis complex in 17. In 20.38% of patients a neurocutaneous syndrome was not confirmed. Approximately 2/3 of the NF1 patients underwent genetic analysis, and for 76.67% of them, a pathogenic mutation on the NF1 gene was revealed. Eighty-one patients manifested with generalized NF1 and eight with mosaic NF1. Dermatological manifestations included café-au-lait macules in all patients, followed by axillary and/or inguinal freckling (n = 57), external plexiform neurofibromas (n = 17), and cutaneous and subcutaneous neurofibromas (n = 11). Approximately half of patients had learning disabilities and attention deficit hyperactivity disorder, followed by mental retardation (n = 9), autistic spectrum disorders (n = 4), headaches (n = 3) and seizures (n = 2). Neuroimaging showed characteristic areas of hyperintensity on T2-weighted images in 74.07% of patients and optic pathway glioma in 19.75%. Two patients developed malignant peripheral sheath nerve tumor. Conclusions: Neurocutaneous syndromes are clinically heterogeneous and the surveillance of potential clinical complications is challenging. The availability of genetic diagnosis and novel imaging methods in this group of disorders is likely to further expand their clinical spectrum. Guidelines for assessment and management will need to be modified based on new available data.


Assuntos
Neurofibromatose 1/fisiopatologia , Equipe de Assistência ao Paciente , Esclerose Tuberosa/fisiopatologia , Adolescente , Transtorno do Deficit de Atenção com Hiperatividade/complicações , Transtorno do Espectro Autista/complicações , Manchas Café com Leite/complicações , Criança , Pré-Escolar , Estudos de Coortes , Dermatologistas , Feminino , Genes da Neurofibromatose 1 , Testes Genéticos , Genética Médica , Grécia , Humanos , Lactente , Deficiência Intelectual/complicações , Transtornos de Aprendizagem/complicações , Masculino , Mosaicismo , Síndromes Neurocutâneas/genética , Síndromes Neurocutâneas/fisiopatologia , Síndromes Neurocutâneas/terapia , Neurofibroma Plexiforme/complicações , Neurofibromatose 1/complicações , Neurofibromatose 1/genética , Neurofibromatose 1/terapia , Neurologistas , Neuropsicologia , Oncologistas , Oftalmologistas , Cirurgiões Ortopédicos , Ambulatório Hospitalar , Pediatras , Radiologia , Neoplasias Cutâneas/diagnóstico , Neoplasias Cutâneas/genética , Neoplasias Cutâneas/fisiopatologia , Neoplasias Cutâneas/terapia , Esclerose Tuberosa/complicações , Esclerose Tuberosa/genética , Esclerose Tuberosa/terapia
5.
BMC Cancer ; 19(1): 435, 2019 May 10.
Artigo em Inglês | MEDLINE | ID: mdl-31077186

RESUMO

BACKGROUND: Several subunits of the SWI/SNF chromatin remodeling complex are implicated in both cancer and neurodevelopmental disorders (NDD). Though there is no clinical evidence for an increased tumor risk in individuals with NDDs due to germline mutations in most of these genes so far, this has been repeatedly proposed and discussed. A young woman with NDD due to a de novo mutation in ARID1B now presented with a large renal (> 19 cm in diameter) and multiple hepatic angiomyolipomas (AMLs) but no other signs of tuberous sclerosis complex. METHODS: We analyzed tumor and healthy tissue samples with exome and panel sequencing. RESULTS: Additionally to the previously known, germline ARID1B variant we identified a post-zygotic truncating TSC2 variant in both renal and hepatic AMLs but not in any of the healthy tissues. We did not detect any further, obvious tumor driver events. The identification of a passenger variant in SIPA1L3 in both AMLs points to a common clonal origin. Metastasis of the renal AML into the liver is unlikely on the basis of discordant histopathological features. Our findings therefore point to very low-grade mosaicism for the TSC2 variant, possibly in a yet unknown mesenchymal precursor cell that expanded clonally during tumor development. A possible contribution of the germline ARID1B variant to the tumorigenesis remains unclear but cannot be excluded given the absence of any other evident tumor drivers in the AMLs. CONCLUSION: This unique case highlights the blurred line between tumor genetics and post-zygotic events that can complicate exact molecular diagnoses in patients with rare manifestations. It also demonstrates the relevance of multiple disorders in a single individual, the challenges of detecting low-grade mosaicisms, and the importance of proper diagnosis for treatment and surveillance.


Assuntos
Angiomiolipoma/genética , Deficiência Intelectual/complicações , Neoplasias Renais/genética , Neoplasias Hepáticas/genética , Proteína 2 do Complexo Esclerose Tuberosa/genética , Proteínas de Ligação a DNA/genética , Feminino , Mutação em Linhagem Germinativa , Humanos , Deficiência Intelectual/genética , Mosaicismo , Fatores de Transcrição/genética , Sequenciamento Completo do Exoma , Adulto Jovem
7.
Fortschr Neurol Psychiatr ; 87(7): 367-374, 2019 Jul.
Artigo em Alemão | MEDLINE | ID: mdl-30970385

RESUMO

AIM: Stress conditions in patients with intellectual disabilities and psychiatric disorders are among all factors the most disabling in their quality of life. We aimed to develop a self-rating and third-person rating instrument verifying the effect of psychiatric and psychotherapeutic treatments in these patients. METHODS: First, we asked 150 caregivers of residential facility for patients with intellectual disabilities and psychiatric disorders to define 20 words, which describe stress conditions most accurately. Secondly, out of the list of collected words, two independent observers (neurologist, Germanist) defined subgroups, to which the words could be referred. Out of the most frequent subgroups, a questionnaire was developed in order to measure the expression of a target symptom. RESULTS: Out of 150 surveyed persons only 40 caregivers participated in the study with resulting 680 words defining stress condition in mentally disabled patients. Out of these, 31 words were excluded by observer A and 30 words by observer B, because according to their assessment, the words did not correctly cover the term 'stress condition'. Out of the remaining words, 13 subgroups were worked out. Exclusion of subgroups with less than 15 words in the development of the questionnaire resulted in following categories: (1) auto-aggression; (2) externalized aggression; (3) verbal aggression (4) isolation; (5) (motoric) restlessness; (6) autonomic changes; (7) emotional changes; (8) behavioral changes. For self- and third-person rating, a Likert scale was introduced, for self-rating, answers were visually supported with symbols. CONCLUSIONS: The development of an instrument to measure stress conditions in these patients is important for the improvement of therapies. Such an instrument for the measurement of psychological, social or medical therapy effects allows disentangling efficient strategies improving the patients' quality of life, as the assessment can be quickly integrated during a hospital intervention.


Assuntos
Deficiência Intelectual/complicações , Deficiência Intelectual/psicologia , Transtornos Mentais/complicações , Transtornos Mentais/psicologia , Estresse Psicológico/complicações , Estresse Psicológico/psicologia , Inquéritos e Questionários , Agressão/psicologia , Comportamento , Cuidadores/psicologia , Emoções , Humanos , Qualidade de Vida , Autorrelato , Estresse Psicológico/diagnóstico
8.
Acta Neurol Scand ; 139(6): 519-525, 2019 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-30820944

RESUMO

OBJECTIVE: Depression and anxiety symptoms are common among patients with epilepsy, but are relatively under-researched in patients with both epilepsy and intellectual disability (ID). The aim was to investigate whether epilepsy and ID characteristics are associated with mood, anxiety, and quality of life. MATERIALS AND METHODS: Adult patients with epilepsy and ID who rely on tertiary epilepsy care were included (N = 189). Mood, anxiety, and quality of life were assessed by standardized questionnaires. Epilepsy and ID characteristics were retrieved from patient charts or determined by psychometric instruments. RESULTS: Elevated levels of depressive and anxiety symptoms were present in 21.7% and 12.7%, respectively. Anxiety was significantly associated with a focal epilepsy type and ID domain discrepancy (substantial difference between two domains of adaptive behavior), but was negatively related to seizure frequency and drug load of mood-stabilizing antiepileptic drugs. Depressive symptoms were not significantly related to epilepsy characteristics, but a severe ID and ID domain discrepancy was associated with more depressive symptoms. Quality of life was significantly worse in those with multiple seizure types and ID domain discrepancy. CONCLUSION: Whereas anxiety and quality of life are associated with individual epilepsy characteristics, this could not be confirmed for depressive symptoms in patients with epilepsy and ID, despite its high prevalence.


Assuntos
Epilepsia/complicações , Epilepsia/psicologia , Deficiência Intelectual/complicações , Deficiência Intelectual/psicologia , Qualidade de Vida/psicologia , Adulto , Afeto , Idoso , Anticonvulsivantes/uso terapêutico , Ansiedade/epidemiologia , Ansiedade/psicologia , Depressão/epidemiologia , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Prevalência , Inquéritos e Questionários , Adulto Jovem
9.
Int. arch. otorhinolaryngol. (Impr.) ; 23(1): 25-30, Jan.-Mar. 2019. tab, graf
Artigo em Inglês | LILACS | ID: biblio-1002179

RESUMO

Abstract Introduction Feeding, swallowing and breathing are fundamental activities for the survival and well-being of humans; these functions are performed by themost complex neuromuscular unit of the human body, which, when altered, may raise morbidity and mortality rates. Objective To evaluate deglutition in patients with mental disability in order to determine the incidence and the severity of dysphagia. Methods A total of 189 institutionalized adult patients with mental disability were analyzed using a 3.2 mm flexible fiberscope (Machida, Japan 1995). The following food consistencies were tested: pasty, thickened liquid and liquid. Results Among the total of 189 patients, 101 (53.4%) were female aged between 14 and 55 years old. Most of them 120 (63.5%) had profound mental deficiency, 58 (30.7%) had severe mental deficiency, 9 (4.8%) had moderate mental deficiency, and 2 (1.1%) had mild mental deficiency. Gender and the degree of mental deficiency did not influence significantly the degree of dysphagia. Age, degree of disability and interaction between age groups and degrees of disability influenced significantly the degree of dysphagia. Younger patients are more likely to present more severe dysphagia. Stabilization occurs between 31 and 40 years of age, and above this age, a greater chance of less severe dysphagia, because the increase in the degree of mental deficiency decreases the probability of more severe dysphagia. Conclusion The population that mostly presented severe dysphagia was characterized by being mostly female, with profound mental deficiency, with an average age of 36.7 years. There was no relationship between gender and the degree of mental disability concerning the degree of dysphagia. (AU)


Assuntos
Adolescente , Adulto , Pessoa de Meia-Idade , Transtornos de Deglutição/complicações , Transtornos de Deglutição/diagnóstico por imagem , Endoscopia/métodos , Deficiência Intelectual/complicações , Transtornos de Deglutição/epidemiologia , Modelos Logísticos , Incidência , Estudos Transversais , Endoscópios , Gravidade do Paciente
10.
Seizure ; 66: 81-85, 2019 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-30818181

RESUMO

PURPOSE: Mutations in SZT2 have been previously reported in several cases of early onset epilepsy and intellectual disability. In this study we investigate potential causal mutations in two male siblings affected by early onset epilepsy, intellectual disability and macrocephaly. METHODS: We use family-based whole-exome sequencing to identify candidate variants. RESULTS: We report the identification of two potential causal SZT2 mutations in compound heterozygous state. We observe considerable differences in the clinical phenotype severity of the two affected individuals. The cerebral MRI revealed no abnormalities in the older affected brother, while in the youngest one it revealed a right frontal polymicrogiria. Moreover, while good seizure control was achieved in the older affected individual the younger brother is affected by pharmacoresistant epilepsy, progressive spastic paraplegia, cortical myoclonus and a more severe intellectual disability. We also analyzed the relative location of the reported pathogenic mutations in the SZT2 protein. CONCLUSION: Variable phenotypic expressivity is observed for this condition, while the location and type of mutations in SZT2 also has a potential impact on epilepsy severity. These findings extend our knowledge of epileptogenic conditions related to SZT2 and mTOR signaling.


Assuntos
Epilepsia/genética , Saúde da Família , Deficiência Intelectual/genética , Megalencefalia/genética , Mutação/genética , Proteínas do Tecido Nervoso/genética , Adulto , Análise Mutacional de DNA , Epilepsia/complicações , Epilepsia/diagnóstico por imagem , Humanos , Deficiência Intelectual/complicações , Deficiência Intelectual/diagnóstico por imagem , Estudos Longitudinais , Imagem por Ressonância Magnética , Masculino , Megalencefalia/complicações , Megalencefalia/diagnóstico por imagem , Sequenciamento Completo do Exoma , Adulto Jovem
11.
Spec Care Dentist ; 39(2): 236-240, 2019 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-30720215

RESUMO

Ectrodactyly ectodermal dysplasia with clefting is a rare syndrome resulting from TP63 gene mutations. It is inherited in autosomal dominant manner or as a de novo transfiguration. It is characterized by a triad of ectodermal dysplasia, ectrodactyly, and facial clefts. This report represents a clinical case of 5 years and 6 months-old male child with ectrodactyly ectodermal dysplasia cleft lip and palate syndrome requiring treatment of his carious teeth. After history taking and clinical examination, the necessary treatment was provided under general anesthesia due to the definitely negative behavior of the child. The treatment outcomes had a positive impact on the behavior and acceptance to dental treatment. This was evidenced by completion of the prosthetic and space management appliances on the dental chair. The child's quality of life was consequently improved. This was evidenced by the reduced response scores of the child perception questionnaire (CPQ11-14 ) after treatment. This report highlighted the value of proper diagnosis and fulfillment of the unmet dental needs for patients with orofacial syndromes to improve their quality of life.


Assuntos
Fissura Palatina/complicações , Assistência Odontológica para Crianças/métodos , Assistência Odontológica para Doentes Crônicos/métodos , Cárie Dentária/terapia , Displasia Ectodérmica/complicações , Deficiência Intelectual/complicações , Sindactilia/complicações , Pré-Escolar , Fissura Palatina/cirurgia , Displasia Ectodérmica/cirurgia , Humanos , Deficiência Intelectual/cirurgia , Masculino , Qualidade de Vida , Sindactilia/cirurgia
12.
Bull Tokyo Dent Coll ; 60(1): 53-60, 2019 Feb 28.
Artigo em Inglês | MEDLINE | ID: mdl-30700644

RESUMO

The purpose of this study was to survey parental satisfaction with ambulatory anesthesia during dental treatment in disabled patients. Factors associated with parental preference for general anesthesia during future dental treatment in such patients were also investigated. A questionnaire was mailed to the parents of 181 disabled individuals who underwent dental treatment under ambulatory anesthesia at Tokyo Dental College Suidobashi Hospital between 2012 and 2016. A total of 71 responses were received (39.2%). The mean patient age was 18 years, and disabilities included autism spectrum disorder, intellectual disability, cerebral palsy, and epilepsy. The items surveyed included dental treatment details, number of times patients received general anesthesia, type of anesthetic used, anesthesia induction method, durations of treatment and anesthesia, and the presence or absence of intraoperative or postoperative complications. Questionnaire items queried problems related to dental care, anesthesia history, preoperative anxiety, length of fasting period, induction of general anesthesia, nursing and hospital room environment, postoperative anxiety, overall evaluation, and whether the parent would prefer general anesthesia during future dental treatment. The patients were divided into 2 groups: those whose parents preferred general anesthesia during future dental treatment and those whose parents did not. The results revealed that, where disabled individuals had previously received general anesthesia during dental treatment, the parents were more likely to prefer general anesthesia during future dental treatment.


Assuntos
Anestesia Dentária/métodos , Assistência Odontológica para Pessoas com Deficiências/métodos , Pais , Satisfação do Paciente , Adolescente , Adulto , Assistência Ambulatorial/métodos , Assistência Ambulatorial/psicologia , Anestesia Dentária/psicologia , Transtorno do Espectro Autista/complicações , Paralisia Cerebral/complicações , Criança , Assistência Odontológica para Pessoas com Deficiências/psicologia , Epilepsia/complicações , Feminino , Humanos , Deficiência Intelectual/complicações , Masculino , Pessoa de Meia-Idade , Pais/psicologia , Inquéritos e Questionários , Adulto Jovem
13.
Am J Case Rep ; 20: 175-178, 2019 Feb 10.
Artigo em Inglês | MEDLINE | ID: mdl-30739122

RESUMO

BACKGROUND The Say-Barber-Biesecker-Young-Simpson (SBBYS) variant of Ohdo syndrome is characterized by congenital hypothyroidism, facial dysmorphism, postaxial polydactyly, and mental retardation. The SBBYS variant of Ohdo syndrome is extremely rare with only 19 cases previously reported in the literature. A case is presented of chronic otitis media associated with cholesteatoma in a six-year-old boy with the SBBYS variant of Ohdo syndrome. CASE REPORT A 6-year-old boy presented with perforation of the tympanic membrane and a cholesteatoma in the mesotympanic-attic region associated with chronic otitis media. The child had previously been diagnosed with the SBBYS variant of Ohdo syndrome. Following computed tomography (CT) and magnetic resonance imaging (MRI), tympanoplasty was performed with removal of the lesion. CONCLUSIONS This is the first case described in the literature of chronic otitis media associated with cholesteatoma in a patient with the SBBYS variant of Ohdo syndrome. This case demonstrates the importance of specialist otolaryngology referral for patient management.


Assuntos
Blefarofimose/complicações , Colesteatoma da Orelha Média/complicações , Hipotireoidismo Congênito/complicações , Cardiopatias Congênitas/complicações , Deficiência Intelectual/complicações , Instabilidade Articular/complicações , Otite Média/complicações , Criança , Colesteatoma da Orelha Média/diagnóstico por imagem , Doença Crônica , Facies , Humanos , Imagem por Ressonância Magnética , Masculino , Doenças Raras
14.
Expert Rev Clin Pharmacol ; 12(3): 219-234, 2019 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-30700161

RESUMO

INTRODUCTION: This is a comprehensive review of antipsychotic (AP)-induced dysphagia and its complications: choking and pneumonia. Areas covered: Four PubMed searches were completed in 2018. The limited literature includes: 1) 45 case reports of AP-induced dysphagia with pharmacological mechanisms, 2) a systematic review of APs as a risk factor for dysphagia, 3) reviews suggesting adult patients with intellectual disability (ID) and dementia are prone to dysphagia (APs are a risk factor among multiple others), 4) studies of the increased risk of choking in patients with mental illness (APs are a contributing factor), 5) naturalistic pneumonia studies suggesting that pneumonia may contribute to AP-increased death in dementia, and 6) naturalistic studies suggesting that pneumonia may be a major cause of morbidity and mortality in clozapine patients. Expert commentary: The 2005 Food and Drug Administration requirement that package inserts warn of AP-induced dysphagia jumpstarted this area, but current studies are limited by: 1) its naturalistic nature, 2) the lack of dysphagia studies of patients with IDs and dementia on APs, and 3) the assumed indirect association between dysphagia with choking and pneumonia. Future clozapine studies on pneumonia, if they lead to a package insert warning, may have high potential to save lives.


Assuntos
Antipsicóticos/efeitos adversos , Clozapina/efeitos adversos , Transtornos de Deglutição/induzido quimicamente , Adulto , Obstrução das Vias Respiratórias/etiologia , Antipsicóticos/administração & dosagem , Clozapina/administração & dosagem , Transtornos de Deglutição/complicações , Transtornos de Deglutição/etiologia , Demência/complicações , Rotulagem de Medicamentos , Humanos , Deficiência Intelectual/complicações , Transtornos Mentais/complicações , Pneumonia/etiologia , Fatores de Risco
15.
J Craniofac Surg ; 30(2): e137-e138, 2019.
Artigo em Inglês | MEDLINE | ID: mdl-30614996

RESUMO

A 68-year-old woman, presented with a squamous cell carcinoma of the malar region, and underwent wide local excision. During her clinical examination, repetitive protrusion and intrusion of the tongue as well as stereotypic, abnormal movements of the mouth and lips were observed, in a pattern that resembled chewing, sucking or lip pursing; dyskinesias ceased when she was speaking or bringing food to the mouth. She was unaware of the movements and the tongue was observed to move similar to choreiform movements, while revealing a giant "snake-like" macroglossia. She had history of mental retardation and alcohol abuse, and was under classic antipsychotic medications for several years. During a previous neurological investigation, type I Chiari malformation was diagnosed. In this case, concomitant Chiari malformation and neuroleptic-induced tardive dyskinesia, may together have been responsible for giant macroglossia, and to our best knowledege no similar observation has been reported in the literature.


Assuntos
Malformação de Arnold-Chiari/complicações , Macroglossia/etiologia , Discinesia Tardia/complicações , Idoso , Alcoolismo/complicações , Antipsicóticos/efeitos adversos , Feminino , Humanos , Deficiência Intelectual/complicações , Discinesia Tardia/induzido quimicamente
16.
J Hum Genet ; 64(4): 341-346, 2019 Apr.
Artigo em Inglês | MEDLINE | ID: mdl-30692597

RESUMO

The genetic causes of combined pituitary hormone deficiency remain elusive in most patients. Recently, incompletely penetrant heterozygous mutations in ROBO1 have been described in patients with pituitary stalk interruption syndrome. Herein, we identified a novel homozygous slice site mutation in ROBO1 (c.1342+1G>A) using a trio whole-exome sequencing strategy in a 5-year-old Japanese boy who had combined pituitary hormone deficiency, psychomotor developmental delay, severe intellectual disability, sensorineural hearing loss, strabismus, and characteristic facial features, including a broad forehead, micrognathia, and arched eyebrows. Magnetic resonance imaging delineated anterior pituitary hypoplasia, ectopic posterior pituitary, invisible pituitary stalk, thinning of the corpus callosum, and hypoplasia of the pons and midbrain. The phenotypically normal parents (first cousins) were heterozygous for the mutation. The results provide further evidence of ROBO1 being involved in the development of the pituitary gland. A recessive mutation of ROBO1 is a potential novel cause of a syndromic disorder associated with combined pituitary hormone deficiency.


Assuntos
Perda Auditiva Neurossensorial/genética , Hipopituitarismo/genética , Deficiência Intelectual/genética , Proteínas do Tecido Nervoso/genética , Receptores Imunológicos/genética , Pré-Escolar , Corpo Caloso/diagnóstico por imagem , Corpo Caloso/fisiopatologia , Perda Auditiva Neurossensorial/complicações , Perda Auditiva Neurossensorial/diagnóstico por imagem , Perda Auditiva Neurossensorial/fisiopatologia , Humanos , Hipopituitarismo/complicações , Hipopituitarismo/diagnóstico por imagem , Hipopituitarismo/fisiopatologia , Deficiência Intelectual/complicações , Deficiência Intelectual/diagnóstico por imagem , Deficiência Intelectual/fisiopatologia , Imagem por Ressonância Magnética , Masculino , Mutação , Sítios de Splice de RNA/genética , Sequenciamento Completo do Exoma
17.
Dev Med Child Neurol ; 61(5): 523-534, 2019 05.
Artigo em Inglês | MEDLINE | ID: mdl-30548847

RESUMO

AIM: In an attempt to clarify the debate surrounding the diagnostic validity of childhood disintegrative disorder (CDD), we systematically reviewed its characteristics and compared it with autism spectrum disorder (ASD). METHOD: Four databases were searched (PubMed, PsycINFO, Embase, and Web of Science). Included articles had participants with CDD, as defined by symptoms present in the criteria of the Diagnostic and Statistical Manual of Mental Disorders, Fourth Edition, Text Revision and the International Classification of Diseases, 10th Revision. Comparison groups were those with ASD and ASD with regression. Case studies were excluded. RESULTS: Twenty articles, comprising 96 participants with CDD (80 males, 16 females), were included. Most studies were cross-sectional. The prevalence of CDD was 1.1 to 9.2 per 100 000, with a mean age at regression of 3 years 2 months (SD 1y 1mo), with a range of 2 years to 7 years. In addition to core CDD symptoms, most had intellectual impairment, anxiety, challenging behaviours, and regressed in toileting skills. Participants with CDD and ASD shared core diagnostic and extra-diagnostic features. However, participants with CDD seemed to have more severe symptoms and a different symptom profile, including apparently typical development before regression, faster regression, more affective symptoms, and more global developmental deficit. Possible genetic and autoimmune neurobiological mechanisms were identified. INTERPRETATION: There is limited high-quality evidence describing the aetiology and outcomes of CDD. However, given the qualitative and prognostic differences between ASD and CDD, we recommend that future diagnostic criteria should distinguish late-onset regression.


Assuntos
Transtorno do Espectro Autista , Deficiência Intelectual/complicações , Transtornos da Linguagem/complicações , Transtornos do Comportamento Social/complicações , Transtorno do Espectro Autista/diagnóstico , Transtorno do Espectro Autista/epidemiologia , Transtorno do Espectro Autista/fisiopatologia , Criança , Pré-Escolar , Humanos , Deficiência Intelectual/epidemiologia , Transtornos da Linguagem/epidemiologia , Transtornos do Comportamento Social/epidemiologia
18.
Am J Hum Genet ; 104(1): 164-178, 2019 01 03.
Artigo em Inglês | MEDLINE | ID: mdl-30580808

RESUMO

SMARCC2 (BAF170) is one of the invariable core subunits of the ATP-dependent chromatin remodeling BAF (BRG1-associated factor) complex and plays a crucial role in embryogenesis and corticogenesis. Pathogenic variants in genes encoding other components of the BAF complex have been associated with intellectual disability syndromes. Despite its significant biological role, variants in SMARCC2 have not been directly associated with human disease previously. Using whole-exome sequencing and a web-based gene-matching program, we identified 15 individuals with variable degrees of neurodevelopmental delay and growth retardation harboring one of 13 heterozygous variants in SMARCC2, most of them novel and proven de novo. The clinical presentation overlaps with intellectual disability syndromes associated with other BAF subunits, such as Coffin-Siris and Nicolaides-Baraitser syndromes and includes prominent speech impairment, hypotonia, feeding difficulties, behavioral abnormalities, and dysmorphic features such as hypertrichosis, thick eyebrows, thin upper lip vermilion, and upturned nose. Nine out of the fifteen individuals harbor variants in the highly conserved SMARCC2 DNA-interacting domains (SANT and SWIRM) and present with a more severe phenotype. Two of these individuals present cardiac abnormalities. Transcriptomic analysis of fibroblasts from affected individuals highlights a group of differentially expressed genes with possible roles in regulation of neuronal development and function, namely H19, SCRG1, RELN, and CACNB4. Our findings suggest a novel SMARCC2-related syndrome that overlaps with neurodevelopmental disorders associated with variants in BAF-complex subunits.


Assuntos
Deficiências do Desenvolvimento/complicações , Deficiências do Desenvolvimento/genética , Deficiência Intelectual/complicações , Deficiência Intelectual/genética , Mutação , Fatores de Transcrição/genética , Anormalidades Múltiplas/genética , Adolescente , Criança , Pré-Escolar , Face/anormalidades , Feminino , Deformidades Congênitas da Mão/genética , Humanos , Masculino , Micrognatismo/genética , Pescoço/anormalidades , Síndrome
19.
Pediatrics ; 143(1)2019 01.
Artigo em Inglês | MEDLINE | ID: mdl-30573661

RESUMO

Purpura fulminans is a rapidly progressive syndrome of intravascular thrombosis and hemorrhagic infarction of the skin. The most common infectious etiology is Neisseria meningitidis sepsis, and less commonly it has been documented as a complication of invasive Streptococcus pneumoniae In children who are otherwise healthy, splenic dysfunction is a significant predisposing factor for invasive pneumococcal infection. We present the case of a 10-month-old girl with a history of developmental delay, who developed an overwhelming infection complicated by purpura fulminans and was found to have previously undiagnosed Mowat-Wilson syndrome with anatomic asplenia. We propose screening patients with clinical features suggestive of Mowat-Wilson syndrome for asplenia to evaluate the need for additional preventive care.


Assuntos
Doença de Hirschsprung/diagnóstico , Deficiência Intelectual/diagnóstico , Microcefalia/diagnóstico , Infecções Pneumocócicas/diagnóstico , Púrpura Fulminante/diagnóstico , Streptococcus pneumoniae/isolamento & purificação , Amputação/métodos , Diagnóstico Diferencial , Facies , Feminino , Doença de Hirschsprung/complicações , Doença de Hirschsprung/cirurgia , Humanos , Lactente , Deficiência Intelectual/complicações , Deficiência Intelectual/cirurgia , Microcefalia/complicações , Microcefalia/cirurgia , Infecções Pneumocócicas/complicações , Infecções Pneumocócicas/cirurgia , Púrpura Fulminante/complicações , Púrpura Fulminante/cirurgia
20.
Int J Pediatr Otorhinolaryngol ; 117: 57-60, 2019 Feb.
Artigo em Inglês | MEDLINE | ID: mdl-30579089

RESUMO

DOOR syndrome is an extremely rare genetic disorder. "DOOR″ is an acronym to describe the combination of: deafness, onychodystrophy, osteodystrophy and mental retardation. We present a patient, with all of the above-mentioned main symptoms, that was rehabilitated with convencional hearing aids. The presented case suggested that every case of deafness and abnormal nails and phalanges in the hands and feet should have a clinical diagnosis of possible DOOR syndrome. Based on embryological process, congenital abnormal nails or phalanges highlights the importance for detailed hearing screening.


Assuntos
Anormalidades Craniofaciais/diagnóstico , Surdez/etiologia , Deformidades Congênitas da Mão/diagnóstico , Perda Auditiva Neurossensorial/diagnóstico , Deficiência Intelectual/etiologia , Unhas Malformadas/etiologia , Proteínas de Transporte/genética , Pré-Escolar , Anormalidades Craniofaciais/complicações , Anormalidades Craniofaciais/terapia , Surdez/terapia , Potenciais Evocados Auditivos , Feminino , Deformidades Congênitas da Mão/complicações , Deformidades Congênitas da Mão/terapia , Auxiliares de Audição , Perda Auditiva Neurossensorial/complicações , Perda Auditiva Neurossensorial/terapia , Humanos , Deficiência Intelectual/complicações , Deficiência Intelectual/diagnóstico , Deficiência Intelectual/terapia , Mutação , Unhas Malformadas/complicações , Unhas Malformadas/diagnóstico , Unhas Malformadas/terapia , Tomografia Computadorizada por Raios X
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