RESUMO
Psychiatric manifestations in patients with tetrahydrobiopterin (BH4) defects are common, and may occur even with treatment of the underlying disorder. The neurobiological background of these conditions has been linked to abnormalities of neurotransmitters, such as dopamine, serotonin, norepinephrine, and gamma-aminobutyric acid. Here, we review the psychiatric profile of all patients with BH4 defects followed in the pediatric and adult metabolic clinics at our center. Three patients with autosomal recessive (AR) guanosine triphosphate cyclohydrolase (GTPCH) deficiency and three patients with 6-pyruvoyl tetrahydropterin synthase (PTPS) deficiency were reviewed.All patients had behavioral disturbances and two had significant psychiatric comorbidities. These included attention deficit/hyperactivity disorder, anxiety, depression, aggression, or oppositional defiant disorder. One patient with PTPS deficiency had a severe psychiatric presentation, requiring inpatient admission and temporary placement into foster care for intensive behavioral therapy. Another with AR GTPCH deficiency was diagnosed with aggressive behavioral dysregulation requiring intensive psychiatric treatment. Management of the psychiatric manifestations of BH4 defects can be challenging, due to lack of information and studies of interactions between psychiatric medications on the deficient neurotransmitters and their receptors in these conditions. Further studies are needed to establish safety and efficacy of these treatments.
Assuntos
Biopterinas , Fenilcetonúrias , Biopterinas/metabolismo , Biopterinas/uso terapêutico , Criança , Humanos , Fósforo-Oxigênio Liases/deficiência , Fósforo-Oxigênio Liases/metabolismoRESUMO
We present a case of a preteen with autism spectrum disorder and severe self-injurious behavior who developed neuroleptic malignant syndrome on antipsychotics and required urgent electroconvulsive therapy and continued maintenance electroconvulsive therapy for ongoing clinical stability.
Assuntos
Transtorno do Espectro Autista/terapia , Eletroconvulsoterapia/métodos , Síndrome Maligna Neuroléptica/terapia , Comportamento Autodestrutivo/terapia , Criança , Humanos , MasculinoRESUMO
Objective: This study aims to delineate the characteristics of severe self-injurious behaviors (SIB) in a cohort of children with autism and unspecified intellectual developmental disorder (UIDD) (intellectual disability) and examine potential risk factors for developing SIB. Methods: A retrospective chart review studied characteristics of severe SIB in 30 children with autism spectrum disorder (ASD) and UIDD referred to a tertiary care center. Characteristics examined include genetic syndromes, brain MRI abnormalities, verbal ability, adaptive functioning, SIB frequency and severity, age of onset, number of psychopharmacological agents, irritability, hyperactivity, stereotypy, psychiatric and physical comorbidities, among others. Descriptive and bivariate analysis were applied to explore potential relationships between factors. Results: Children with severe SIB exhibit this behaviour with high frequency, inflicting moderate to severe injury. Most children in the study sample are non-verbal and have ASD (93.3%; n = 28) with psychiatric (96.7%; n = 29) and physical (90%; n = 27) comorbidities. Overall SIB improvement using the Clinical Global Impression, Improvement Score (CGI-I) was 3.0 (minimally improved). A minority were much or very much improved following appropriate intervention. Conclusions: The severity of SIB is much higher in this sample than previously noted in the literature. Severe SIB is associated with ADHD, early onset mood disorders, tics, avoidant restrictive food intake disorder and Obsessive-Compulsive Disorder.
RESUMO
Psychiatric disease occurs with increased frequency in a number of malformation syndromes. We hypothesize that the study of these disorders is helpful for understanding the pathophysiology of psychiatric disease. With this objective, we have been screening for individuals with malformations and prominent psychiatric disease. We report on a man with visual and auditory hallucinations and behavioral problems who was the product of an incestuous relationship and had anomalies primarily of his face, hands and feet. His distinctive features define an undescribed acro-auricular malformation syndrome with a psychiatric component. The study of Mendelian syndromes such as the one presented will likely be helpful for isolating novel genes involved in psychiatric illness.
Assuntos
Anormalidades Múltiplas/genética , Anormalidades Múltiplas/psicologia , Transtornos Mentais/genética , Anormalidades Múltiplas/patologia , Adolescente , Consanguinidade , Anormalidades Craniofaciais/genética , Anormalidades Craniofaciais/patologia , Feminino , Deformidades Congênitas do Pé/genética , Deformidades Congênitas do Pé/patologia , Alucinações/genética , Deformidades Congênitas da Mão/genética , Deformidades Congênitas da Mão/patologia , Humanos , Incesto , Masculino , Transtornos Mentais/complicações , Linhagem , Fenótipo , SíndromeRESUMO
X-linked mental retardation (XLMR) affects 1-2/1,000 males and accounts for approximately 10% of all mental retardation (MR). We have ascertained a syndromic form of XLMR segregating within a five-generation family with seven affected males. Prominent characteristics include mild to severe MR, cortical malformation, microcephaly, seizures, thin build with distinct facial features including a long and thin face, epicanthic folds, almond-shaped eyes, upslanting palpebral fissures and micrognathia and behavioral problems. Carrier females have normal physical appearance and intelligence. This combination of features is unreported and distinct from Lujan-Fryns syndrome, Snyder-Robinson syndrome, and zinc finger DHHC domain-containing 9-associated MR. We propose the name of this new syndrome to be CK syndrome.
Assuntos
Constituição Corporal , Córtex Cerebral/anormalidades , Deficiência Intelectual Ligada ao Cromossomo X/complicações , Deficiência Intelectual Ligada ao Cromossomo X/genética , Microcefalia/complicações , Microcefalia/genética , Adolescente , Adulto , Criança , Pré-Escolar , Fácies , Evolução Fatal , Feminino , Mãos/diagnóstico por imagem , Humanos , Lactente , Recém-Nascido , Imageamento por Ressonância Magnética , Masculino , Pessoa de Meia-Idade , Linhagem , Gravidez , RadiografiaRESUMO
The delivery of mental health services to persons with Intellectual Disability (ID) in British Columbia (BC), Canada, is worth documenting because BC is one of the few jurisdictions in the world to completely close its institutions for people with ID. This paper documents the delivery of mental health care in BC for this population and contrasts the dream versus the reality of community living for people with dual diagnosis (mental illness coupled with an intellectual disability).
Assuntos
Desinstitucionalização , Atenção à Saúde , Deficiência Intelectual/terapia , Transtornos Mentais/terapia , Serviços de Saúde Mental , Adolescente , Adulto , Colúmbia Britânica , Criança , Serviços Comunitários de Saúde Mental , Comorbidade , Intervenção em Crise , Diagnóstico Duplo (Psiquiatria) , Feminino , Lares para Grupos , Fechamento de Instituições de Saúde , Hospitais Psiquiátricos , Humanos , Deficiência Intelectual/diagnóstico , Deficiência Intelectual/epidemiologia , Masculino , Transtornos Mentais/diagnóstico , Transtornos Mentais/epidemiologia , Transtornos Mentais/psicologia , Admissão do Paciente , Equipe de Assistência ao PacienteRESUMO
OBJECTIVES: To investigate the presentation of early-onset schizophrenia in children with mental retardation (MR) and the stability of clinical features over time. METHOD: A purpose-designed assessment protocol was developed based on best-practice recommendations in the research literature. Diagnostic reliability, investigated in a group of 20 children with MR, was found to be very good (kappa = 0.87). Using this protocol, the clinical service identified 10 children with an initial diagnosis of schizophrenia. This group was then reassessed 2 years later. RESULTS: At the end of 2 years, 8 of the 10 children with schizophrenia still warranted this diagnosis. However, there was considerable instability in relation to certain diagnostic criteria, notably delusions and visual hallucinations. In all cases some improvements in severity were seen at follow-up. However, the eight whose schizophrenia was confirmed at follow-up showed major deterioration in cognitive level. CONCLUSIONS: It is possible to make reliable diagnoses of early-onset schizophrenia in people with MR, provided the assessment system is carefully structured and pays attention to all the important sources of information. However, symptoms should be reviewed frequently, particularly those that cannot be substantiated by patient interview.
Assuntos
Deficiência Intelectual/complicações , Escalas de Graduação Psiquiátrica , Esquizofrenia/complicações , Esquizofrenia/diagnóstico , Adolescente , Fatores Etários , Feminino , Seguimentos , Humanos , Masculino , Reprodutibilidade dos Testes , Índice de Gravidade de DoençaRESUMO
Electroconvulsive therapy (ECT) is an effective treatment of a variety of serious psychiatric and neurologic disorders. There are infrequent case reports of its use in individuals with mental retardation (MR). We describe 10 patients with MR and complex comorbid psychiatric disorder treated with ECT. Seven patients had an excellent response to treatment. Side effects of treatment were minimal and transitory.