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1.
Rev Med Suisse ; 16(708): 1786-1789, 2020 Sep 30.
Artigo em Francês | MEDLINE | ID: mdl-32997447

RESUMO

Behavioral disorders in people with developmental and intellectual disability are frequent but their management is rarely taught. This article is to help primary physicians prescribe drug treatment. We will also discuss the key elements of two of the most commonly used classes of drugs, taking into account the patient's co-morbidities, contraindications and the main side effects.


Assuntos
Deficiência Intelectual/tratamento farmacológico , Deficiência Intelectual/psicologia , Comportamento Problema/psicologia , Comorbidade , Humanos , Deficiência Intelectual/complicações
2.
Rev Med Suisse ; 16(708): 1796-1800, 2020 Sep 30.
Artigo em Francês | MEDLINE | ID: mdl-32997449

RESUMO

Behavioural disorders in adults with mental disabilities are very common and represent a diagnostic challenge. In fact, they often hide a somatic problem, which is more frequent in this population compared to the general population. These somatic symptoms may cause or enhance psychiatric symptoms. People with mental disabilities often have difficulties expressing their pain, which often manifests itself as mood changes. Consequently, it is important to be able to identify the pain as a priority and to treat it. The general practitioner should therefore check for the most common somatic complaints in people with mental disabilities, with the help of the acronym DODUGO (Dental, Otic, Digestive, UroGenital, Orthopaedic).


Assuntos
Deficiência Intelectual , Sintomas Inexplicáveis , Comportamento Problema , Adulto , Humanos , Deficiência Intelectual/complicações , Deficiência Intelectual/psicologia , Dor/complicações , Dor/diagnóstico , Dor/psicologia , Transtornos da Personalidade/complicações , Transtornos da Personalidade/diagnóstico , Transtornos da Personalidade/psicologia
3.
Rev Med Suisse ; 16(708): 1811-1816, 2020 Sep 30.
Artigo em Francês | MEDLINE | ID: mdl-32997452

RESUMO

Patients suffering from intellectual and developmental disabilities are vulnerable and often polymorbid. The neurosensory disorders that hinder communication and the multitude of caregivers working with them are main causes for the complexity of their care. In order to avoid fragmentation of care and to ensure optimal quality, the primary care physician should be able to show leadership and coordinate care to limit risky interventions and hospitalizations.


Assuntos
Deficiências do Desenvolvimento , Clínicos Gerais , Deficiência Intelectual , Papel do Médico , Cuidadores , Comunicação , Deficiências do Desenvolvimento/complicações , Hospitalização , Humanos , Deficiência Intelectual/complicações
4.
Intellect Dev Disabil ; 58(4): 257-261, 2020 08 01.
Artigo em Inglês | MEDLINE | ID: mdl-32750709

RESUMO

The coronavirus (COVID-19) pandemic has affected, and will continue to affect, every aspect of the intellectual and developmental disabilities (IDD) community. We provide recommendations to (a) support people with IDD and the broader of field of IDD during the course of the pandemic, and (b) place the IDD community in a strong position when the health threats associated with the pandemic abate and post-pandemic social and policy structures are formed.


Assuntos
Betacoronavirus , Infecções por Coronavirus/complicações , Deficiências do Desenvolvimento/complicações , Deficiência Intelectual/complicações , Pneumonia Viral/complicações , Adulto , Criança , Infecções por Coronavirus/prevenção & controle , Deficiências do Desenvolvimento/virologia , Disparidades em Assistência à Saúde , Humanos , Deficiência Intelectual/virologia , Pandemias/prevenção & controle , Pneumonia Viral/prevenção & controle
5.
Psiquiatr. biol. (Internet) ; 27(2): 61-67, mayo-ago. 2020.
Artigo em Espanhol | IBECS | ID: ibc-193248

RESUMO

A lo largo de todas las etapas evolutivas, las personas con discapacidad intelectual pueden presentar trastornos psiquiátricos comórbidos, que a menudo son secundarios a sus déficits intelectivos y a las dificultades en sus capacidades adaptativas a los diferentes entornos que forman parte de sus vidas. Estas comorbilidades psiquiátricas cursan en ocasiones con alteraciones de conducta de difícil manejo, tanto con psicoterapia como con tratamientos farmacológicos. La medicación puede ser esencial para el control de alteraciones de conducta y otros síntomas asociados. Actualmente carecemos de guías clínicas específicas, de recomendaciones farmacológicas con la suficiente evidencia científica y de medicamentos con indicaciones expresas para abordar estos síntomas en pacientes con discapacidad intelectual. Este artículo de revisión tiene como objetivo resumir un conjunto de recomendaciones relacionadas con el uso de psicofármacos en este grupo poblacional


Throughout all evolutionary stages, people with intellectual disabilities (ID) may present with comorbid psychiatric disorders, which are often secondary to their intellectual deficits, and to the difficulties they face in their ability to adapt to the different environments that are part of their lives. These psychiatric comorbidities sometimes result in behavioral problems that are difficult to handle, both with psychotherapy and with pharmacological treatments. Medication can be essential for the control of behavioral disorders, and other associated symptoms. We currently lack specific clinical guidelines, pharmacological recommendations based on sufficient scientific evidence, and drugs with express indications for these symptoms in patients with ID. This review article aims to summarize a set of recommendations related to the use of psychiatric drugs in this population group


Assuntos
Humanos , Transtornos Mentais/complicações , Transtornos Mentais/tratamento farmacológico , Deficiência Intelectual/complicações , Transtorno da Conduta/complicações , Psicotrópicos/administração & dosagem , Comorbidade
6.
Disabil Health J ; 13(3): 100942, 2020 07.
Artigo em Inglês | MEDLINE | ID: mdl-32473875

RESUMO

BACKGROUND: Despite possibly higher risk of severe outcomes from COVID-19 among people with intellectual and developmental disabilities (IDD), there has been limited reporting of COVID-19 trends for this population. OBJECTIVE: To compare COVID-19 trends among people with and without IDD, overall and stratified by age. METHODS: Data from the TriNetX COVID-19 Research Network platform was used to identify COVID-19 patients. Analysis focused on trends in comorbidities, number of cases, number of deaths, and case-fatality rate among patients with and without IDD who had a positive diagnosis for COVID-19 through May 14, 2020. RESULTS: People with IDD had higher prevalence of specific comorbidities associated with poorer COVID-19 outcomes. Distinct age-related differences in COVID-19 trends were present among those with IDD, with a higher concentration of COVID-19 cases at younger ages. In addition, while the overall case-fatality rate was similar for those with IDD (5.1%) and without IDD (5.4%), these rates differed by age: ages ≤17 - IDD 1.6%, without IDD <0.01%; ages 18-74 - IDD 4.5%, without IDD 2.7%; ages ≥75- IDD 21.1%, without IDD, 20.7%. CONCLUSIONS: Though of concern for all individuals, COVID-19 appears to present a greater risk to people with IDD, especially at younger ages. Future research should seek to document COVID-19 trends among people with IDD, with particular attention to age related trends.


Assuntos
Betacoronavirus , Infecções por Coronavirus/epidemiologia , Deficiências do Desenvolvimento/complicações , Deficiência Intelectual/complicações , Pneumonia Viral/epidemiologia , Adolescente , Adulto , Idoso , Criança , Pré-Escolar , Comorbidade , Infecções por Coronavirus/complicações , Pessoas com Deficiência , Feminino , Humanos , Lactente , Recém-Nascido , Masculino , Pessoa de Meia-Idade , Pandemias , Pneumonia Viral/complicações , Prevalência , Adulto Jovem
7.
PLoS One ; 15(5): e0232990, 2020.
Artigo em Inglês | MEDLINE | ID: mdl-32384097

RESUMO

BACKGROUND: Underlying medical causes of obesity (endocrine disorders, genetic obesity disorders, cerebral or medication-induced obesities) are thought to be rare. Even in specialized pediatric endocrinology clinics, low diagnostic yield is reported, but evidence is limited. Identifying these causes is vital for patient-tailored treatment. OBJECTIVES: To present the results of a systematic diagnostic workup in children and adolescents referred to a specialized pediatric obesity center. METHODS: This is a prospective observational study. Prevalence of underlying medical causes was determined after a multidisciplinary, systematic diagnostic workup including growth charts analysis, extensive biochemical and hormonal assessment and genetic testing in all patients. RESULTS: The diagnostic workup was completed in n = 282 patients. Median age was 10.8 years (IQR 7.7-14.1); median BMI +3.7SDS (IQR +3.3-+4.3). In 54 (19%) patients, a singular underlying medical cause was identified: in 37 patients genetic obesity, in 8 patients cerebral and in 9 patients medication-induced obesities. In total, thirteen different genetic obesity disorders were diagnosed. Obesity onset <5 years (p = 0.04) and hyperphagia (p = 0.001) were indicators of underlying genetic causes, but only in patients without intellectual disability (ID). Patients with genetic obesity with ID more often had a history of neonatal feeding problems (p = 0.003) and short stature (p = 0.005). BMI-SDS was not higher in patients with genetic obesity disorders (p = 0.52). Patients with cerebral and medication-induced obesities had lower height-SDS than the rest of the cohort. CONCLUSIONS: To our knowledge, this is the first study to report the results of a systematic diagnostic workup aimed at identifying endocrine, genetic, cerebral or medication-induced causes of pediatric obesity. We found that a variety of singular underlying causes were identified in 19% of the patients with severe childhood obesity. Because of this heterogeneity, an extensive diagnostic approach is needed to establish the underlying medical causes and to facilitate disease-specific, patient-tailored treatment.


Assuntos
Obesidade Pediátrica/etiologia , Adolescente , Instituições de Assistência Ambulatorial , Encefalopatias/complicações , Criança , Pré-Escolar , Efeitos Colaterais e Reações Adversas Relacionados a Medicamentos/diagnóstico , Efeitos Colaterais e Reações Adversas Relacionados a Medicamentos/etiologia , Doenças do Sistema Endócrino/complicações , Feminino , Testes Genéticos , Humanos , Lactente , Recém-Nascido , Deficiência Intelectual/complicações , Masculino , Países Baixos , Obesidade Pediátrica/diagnóstico , Obesidade Pediátrica/genética , Fenótipo , Estudos Prospectivos
8.
Dev Neuropsychol ; 45(3): 139-153, 2020.
Artigo em Inglês | MEDLINE | ID: mdl-32207999

RESUMO

This study examined if children (Mage = 14.60) with Mild Intellectual Disabilities (MID) display weaknesses in number processing and verbal working memory. An age-matched and mental age-matched (MA, Mage = 6.17) design extended by a group of 9-10-year-olds, and a group of 11-12-year-olds were used. The MID children's working memory was equal to the MA group but poorer than the other groups. On number tasks, the MID group was faster than the MA group but slower than the other groups. All groups obtained equal Weber fraction scores and distance effects on the number comparison tasks. The MID group performed subitizing and counting faster than the MA group, but slower than the 11-12-year-olds. The results demonstrate that number processing and working memory in children with MID is characterized by a developmental delay, not a deficit. Their main problem is to access the quantitative meaning of Arabic numerals. The development of different types of cognitive abilities is differently affected by educational experience and intellectual ability. The innate number system appears to be unaffected by intellectual capacity or educational experience, while the innate working memory ability is affected by intellectual capacity but not by educational experience. Culturally acquired symbolic number abilities are strongly affected by educational experience.


Assuntos
Deficiência Intelectual/complicações , Memória de Curto Prazo/fisiologia , Testes Neuropsicológicos/normas , Adolescente , Feminino , Humanos , Masculino , Conceitos Matemáticos
9.
BMC Med Genet ; 21(1): 59, 2020 03 24.
Artigo em Inglês | MEDLINE | ID: mdl-32209057

RESUMO

BACKGROUND: Intellectual disability (ID) is both a clinically diverse and genetically heterogeneous group of disorder, with an onset of cognitive impairment before the age of 18 years. ID is characterized by significant limitations in intellectual functioning and adaptive behaviour. The identification of genetic variants causing ID and neurodevelopmental disorders using whole-exome sequencing (WES) has proven to be successful. So far more than 1222 primary and 1127 candidate genes are associated with ID. METHODS: To determine pathogenic variants causative of ID in three unrelated consanguineous Pakistani families, we used a combination of WES, homozygosity-by-descent mapping, de-deoxy sequencing and bioinformatics analysis. RESULTS: Rare pathogenic single nucleotide variants identified by WES which passed our filtering strategy were confirmed by traditional Sanger sequencing and segregation analysis. Novel and deleterious variants in VPS53, GLB1, and MLC1, genes previously associated with variable neurodevelopmental anomalies, were found to segregate with the disease in the three families. CONCLUSIONS: This study expands our knowledge on the molecular basis of ID as well as the clinical heterogeneity associated to different rare genetic causes of neurodevelopmental disorders. This genetic study could also provide additional knowledge to help genetic assessment as well as clinical and social management of ID in Pakistani families.


Assuntos
Consanguinidade , Deficiência Intelectual/genética , Proteínas de Membrana/genética , Polimorfismo Genético , Proteínas de Transporte Vesicular/genética , beta-Galactosidase/genética , Criança , Pré-Escolar , Família , Feminino , Genes Recessivos/genética , Heterogeneidade Genética , Testes Genéticos , Homozigoto , Humanos , Deficiência Intelectual/complicações , Deficiência Intelectual/patologia , Masculino , Transtornos do Neurodesenvolvimento/complicações , Transtornos do Neurodesenvolvimento/genética , Transtornos do Neurodesenvolvimento/patologia , Paquistão/epidemiologia , Linhagem , Sequenciamento Completo do Exoma
10.
Curr Psychiatry Rep ; 22(2): 9, 2020 02 01.
Artigo em Inglês | MEDLINE | ID: mdl-32008108

RESUMO

PURPOSE OF REVIEW: Although treatment algorithms and parameters for best practice are readily available for all major syndromes of psychiatric impairment, the occurrence of psychiatric syndromes in individuals with intellectual and developmental disability (IDD) invokes serious contextual challenges for interpretation of symptoms, diagnosis, and optimization of treatment, both for clinicians and for the service sectors in which care and support of individuals with IDD are delivered. Recognizing that there exist very few definitive resources for best practice under the circumstance of this form of "dual diagnosis," the Missouri Department of Mental Health convened an expert panel to conduct a focused review and synthesis of the relevant scientific literature from which to develop guidance in the form of decision support to clinicians. This article summarizes the findings for three of the most common and impairing clusters of psychiatric symptoms that co-occur with IDD-aggression, depression, and addictions. RECENT FINDINGS: Individuals with IDD are at high risk for the development of psychiatric symptoms (PS), which often manifest uniquely in IDD and for which evidence for effective intervention is steadily accruing. Interventions that are commonly implemented in the IDD service sector (e.g., functional communication training and positive behavioral support planning) are capable of mitigating severe behavioral impairment, yet rarely invoked when dual diagnosis patients are seen in the psychiatric service sector. Conversely, state-of-the-art interventions for traumatic stress, pharmacotherapy, and psychotherapy have proven capable of improving behavioral impairments in IDD but are typically restricted to the psychiatric service sector, where there exist significant barriers to access for patients with IDD, including limitations imposed by diagnostic eligibility and practitioner experience. Bridging these gaps in knowledge and clinical capacity across the respective IDD and PS service sectors should be of very high priority in strategizing the care and support of IDD patients with serious co-occurring psychiatric conditions.


Assuntos
Deficiências do Desenvolvimento/complicações , Deficiências do Desenvolvimento/diagnóstico , Deficiência Intelectual/complicações , Deficiência Intelectual/diagnóstico , Transtornos Mentais/complicações , Transtornos Mentais/diagnóstico , Deficiências do Desenvolvimento/terapia , Humanos , Deficiência Intelectual/terapia , Transtornos Mentais/terapia
11.
Nervenarzt ; 91(3): 271-281, 2020 Mar.
Artigo em Alemão | MEDLINE | ID: mdl-32103297

RESUMO

People with intellectual disability (ID) have a high vulnerability to develop mental health problems. The prevalence of mental disorders is higher than in the general population and, in addition, adults with ID often show behavioral problems that imply a need for psychiatric psychotherapeutic care. In view of the impairments of intellectual functioning, impaired adaptive behavioral skills and physical illnesses, the needs of this target group are usually complex and require particular expertise. A number of specific assessment instruments are available for target group-specific diagnostics to collate the cognitive performance and emotional development as well as for psychopathological symptoms and behavioral disorders. To improve the accuracy of diagnosis in the ID population, existing alternatives to DSM or ICD should be applied especially to adults with moderate or severe ID. Guidelines for psychopharmacotherapy and adapted user guides for psychotherapeutic treatment provide support in the context of target group-specific treatment.


Assuntos
Deficiência Intelectual , Transtornos Mentais , Adulto , Humanos , Deficiência Intelectual/complicações , Transtornos Mentais/complicações , Transtornos Mentais/diagnóstico , Transtornos Mentais/terapia , Saúde Mental/estatística & dados numéricos , Prevalência , Comportamento Problema/psicologia , Psicotrópicos
12.
Adv Neurobiol ; 24: 83-96, 2020.
Artigo em Inglês | MEDLINE | ID: mdl-32006357

RESUMO

Autism spectrum disorder (ASD) is a heterogeneous condition affecting >1% of all children, characterized by impaired social interactions, repetitive behavior and a widely variable spectrum of comorbidities. These comorbidities may include developmental delay, gastrointestinal problems, cardiac disorders, immune and autoimmune dysregulation, neurological manifestations (e.g., epilepsy, intellectual disability), and other clinical features. This wide phenotypic heterogeneity is difficult to predict and manifests across a wide range of ages and with a high degree of difference in severity, making disease management and prediction of a successful intervention very difficult. Recently, advances in genomics and other molecular technologies have enabled the study of ASD on a molecular level, illuminating genes and pathways whose perturbations help explain the clinical variability among patients, and whose impairments provide possible opportunities for better treatment options. In fact, there are now >1000 genes that have been linked to ASD through genetic studies of more than 10,000 patients and their families. This chapter discusses these discoveries and in the context of recent developments in genomics and bioinformatics, while also examining the trajectory of gene discovery efforts over the past few decades, as both better ascertainment and global attention have been given to this highly vulnerable patient population.


Assuntos
Transtorno do Espectro Autista/genética , Genoma Humano/genética , Genômica , Transtorno do Espectro Autista/complicações , Deficiências do Desenvolvimento/complicações , Deficiências do Desenvolvimento/genética , Humanos , Deficiência Intelectual/complicações , Deficiência Intelectual/genética
13.
Dev Med Child Neurol ; 62(3): 283-289, 2020 03.
Artigo em Inglês | MEDLINE | ID: mdl-32010976

RESUMO

Children with cerebral palsy (CP) have an increased risk of cognitive impairments. This narrative review of the literature discusses assessment of cognition in children with CP, presents the most salient characteristics of cognitive functioning pertaining to each subtype, and discusses the relationships between brain injury, functioning, and intervention from a developmental perspective. A search for original studies of cognitive functioning in children with different subtypes of CP was performed. The search resulted in 81 unique hits. There were few studies with a representative sample of children with CP where all participants were individually assessed. Cognitive functioning in children with the most severe motor impairments were often assumed and not assessed. Furthermore, there was a confounding of IQ below 70 and intellectual disability, possibly leading to an overestimation of the prevalence of intellectual disability. Longitudinal neuropsychological studies, including also very young children and those with the most severe speech and motor impairments, as well as intervention studies, are called for. WHAT THIS PAPER ADDS: Few studies have assessed cognition in a representative sample of children with cerebral palsy. Cognition in children with severe motor impairment is often assumed, not assessed. Lack of assessment may lead to overestimating the prevalence of intellectual disability. Lowered cognitive functioning in older children highlights the need for longitudinal studies.


Assuntos
Paralisia Cerebral/psicologia , Cognição/fisiologia , Disfunção Cognitiva/psicologia , Paralisia Cerebral/complicações , Criança , Disfunção Cognitiva/complicações , Humanos , Deficiência Intelectual/complicações , Deficiência Intelectual/psicologia , Testes Neuropsicológicos
15.
Exerc Sport Sci Rev ; 48(2): 92-97, 2020 04.
Artigo em Inglês | MEDLINE | ID: mdl-31977590

RESUMO

Physical fitness is positively related to health outcomes like morbidity and all-cause mortality, with minimally required cutoff values to generate those health benefits. Individuals with intellectual disability (ID) exhibit very low fitness levels well below those cutoff values. Our novel hypothesis is that even among very unfit, older adults with ID, small changes in fitness translate to major changes in health.


Assuntos
Exercício Físico/fisiologia , Nível de Saúde , Deficiência Intelectual/fisiopatologia , Aptidão Física , Adulto , Envelhecimento/fisiologia , Humanos , Deficiência Intelectual/complicações , Valores de Referência
16.
Int J Pediatr Otorhinolaryngol ; 131: 109842, 2020 Apr.
Artigo em Inglês | MEDLINE | ID: mdl-31927149

RESUMO

OBJECTIVES: Classically, Pierre Robin Sequence (PRS) is a triad of micrognathia, glossoptosis, and airway obstruction, although frequently associated with cleft palate. Current literature reports that Stickler syndrome is the most common syndrome associated with PRS, and 22q11 deletion syndrome (22q11 DS) as the second most common. This study identifies associations between PRS and genetic syndromes. METHODS: A retrospective chart review was performed to identify patients diagnosed with PRS over a 10-year period from 4/1/2007 to 4/1/2017 at a tertiary children's hospital. RESULTS: 4,052 consecutive charts were reviewed and 234 patients had a diagnosis of PRS confirmed with the triad of micrognathia, glossoptosis, and airway obstruction. Of note, all of these patients had cleft palate. Of the 234 patients with PRS, 65 patients had syndromic diagnoses (28%). One patient had 22q11 DS (0.43%), and 31 patients had Stickler syndrome (13.2%). Additionally, 3 patients had central hypoventilation syndrome, 3 patients had Duane syndrome, 2 patients had Cornelia de Lange syndrome, 2 patients had Emanuel syndrome, 2 patients had Gordon syndrome, 2 patients had Mobius syndrome, 2 patients had Nager syndrome. Multiple other syndromes were identified, but occurred in isolated cases. CONCLUSION: This study supports literature that PRS is most commonly associated with Stickler Syndrome but rarely associated with 22q11 DS given that only 1 patient had both PRS and 22q11 DS.


Assuntos
Artrite/complicações , Doenças do Tecido Conjuntivo/complicações , Perda Auditiva Neurossensorial/complicações , Síndrome de Pierre Robin/complicações , Descolamento Retiniano/complicações , Síndrome da Deleção 22q11/complicações , Adolescente , Artrogripose/complicações , Criança , Pré-Escolar , Transtornos Cromossômicos/complicações , Fissura Palatina/complicações , Pé Torto Equinovaro/complicações , Síndrome de Cornélia de Lange/complicações , Síndrome da Retração Ocular/complicações , Feminino , Deformidades Congênitas da Mão/complicações , Cardiopatias Congênitas/complicações , Humanos , Hipoventilação/complicações , Hipoventilação/congênito , Lactente , Recém-Nascido , Deficiência Intelectual/complicações , Masculino , Disostose Mandibulofacial/complicações , Síndrome de Möbius/complicações , Hipotonia Muscular/complicações , Estudos Retrospectivos , Apneia do Sono Tipo Central/complicações
17.
Eur Arch Paediatr Dent ; 21(5): 617-622, 2020 Oct.
Artigo em Inglês | MEDLINE | ID: mdl-31898299

RESUMO

PURPOSE: Self-induced soft-tissue injuries (SSI) are reported as local anesthesia complications, particularly in children. The purpose of the study was to evaluate the frequency of SSI following dental anesthesia in children with and without intellectual disability. METHODS: 241 children receiving dental treatments with local anesthesia were divided into 2 groups: A, children without intellectual disability (159 individuals, 299 injections); B, children with intellectual disability (82 individuals, 165 injections). Each group was divided into subgroups according to age, injection technique and dental treatment. Two days after the dental procedure, a phone survey was conducted to determine the presence of SSI. RESULTS: The frequency of SSI in group B was 19%, with no differences in relation to gender and age. In group A the frequency of SSI was significantly lower (9%; p = 0.002; Chi-square test); the children in the ≤ 6 years-old subgroup experienced a higher frequency of SSI (p = 0.002). The lower arch was at major risk of SSI in both groups (p = 0.002). According to a multilevel approach group (p = 0.001) and injection technique (p = 0.0001) significantly influenced SSI; no influence of dental treatment is evidenced. CONCLUSIONS: SSI are common complications of local anesthesia in young children and individuals with intellectual disability.


Assuntos
Anestesia Dentária/efeitos adversos , Deficiência Intelectual/complicações , Anestesia Local/efeitos adversos , Criança , Pré-Escolar , Humanos , Injeções , Estudos Prospectivos
18.
Int J Pediatr Otorhinolaryngol ; 128: 109735, 2020 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-31675646

RESUMO

Coffin-Siris Syndrome (CSS) is a genetic syndrome associated with multiple congenital anomalies due to mutations in the BAF-complex or SOX gene. Although well characterized overall, the subunits of the BAF-complex or SOX gene affected demonstrate phenotypic differences which are continuing to be defined. Among the variants is the SMARCE1 mutation, the least common identified genotype. This case report presents a pediatric patient with SMARCE1-related CSS, the seventh case reported in the literature. The congenital anomalies are discussed and compared to the reported cases of SMARCE1-related CSS and CSS overall with an emphasis on otolaryngologic manifestations.


Assuntos
Face/anormalidades , Deformidades Congênitas da Mão/complicações , Deficiência Intelectual/complicações , Micrognatismo/complicações , Pescoço/anormalidades , Anormalidades Múltiplas , Pré-Escolar , Proteínas Cromossômicas não Histona/genética , Fenda Labial/etiologia , Proteínas de Ligação a DNA/genética , Deficiências do Desenvolvimento/etiologia , Epiglote/anormalidades , Perda Auditiva Condutiva/etiologia , Humanos , Macroglossia/etiologia , Masculino , Micrognatismo/etiologia , Ventilação da Orelha Média , Mutação , Otite Média/etiologia , Otite Média/terapia , Palato/anormalidades , Traqueomalácia/congênito
19.
Dev Neurorehabil ; 23(2): 121-132, 2020 Feb.
Artigo em Inglês | MEDLINE | ID: mdl-31682551

RESUMO

Background: Children with intellectual disability are at risk for anxiety disorders involving intense physiological reactions and risky behavioral responses. Interventions have been identified in this field; however, assessment of underlying anxiety is limited and flawed.Method: We implemented a single-subject case study using differential reinforcement to treat dog phobia in a boy with intellectual disability. We recorded elopement and compliance with goals and measured physiological expressions of stress: galvanic skin response, heart rate variability, temperature, and latency to calm down.Results: After fifteen therapy sessions, the boy decreased elopement and noncompliance considerably and showed dramatic improvements in emotional self-regulation.Conclusions: Future research should examine the utility of including biosensing measures in clinical applications and the relationship between physiological measures of anxiety and traditional questionnaires. Children with intellectual disability at risk for anxiety disorders should be tracked longitudinally to examine the effect of interventions on social-emotional well-being and self-regulation.


Assuntos
Sintomas Comportamentais/terapia , Cães , Deficiência Intelectual/psicologia , Transtornos Fóbicos/terapia , Psicoterapia/métodos , Adolescente , Animais , Sintomas Comportamentais/complicações , Resposta Galvânica da Pele , Frequência Cardíaca , Humanos , Deficiência Intelectual/complicações , Masculino , Transtornos Fóbicos/complicações , Reforço Psicológico
20.
Acta Neurol Scand ; 141(4): 279-286, 2020 Apr.
Artigo em Inglês | MEDLINE | ID: mdl-31853958

RESUMO

OBJECTIVE: Lacosamide (LCM) is an antiepileptic drug (AED) with insufficient clinical experience in patients with intellectual disability (ID). They often have more severe epilepsy with comorbidities. The objective was to evaluate the efficacy and tolerability of lacosamide (LCM) in patients with refractory epilepsy with and without ID in a real-life setting, taking drug monitoring (TDM) data into account therapeutic. METHODS: Retrospectively, we identified 344 patients using LCM from the TDM service covering the majority of the country, at the National Center for Epilepsy in Norway (2013-2018). Clinical and TDM data were available for 132 patients. RESULTS: Forty-four of the 132 patients (33%) had ID. The retention rate was significantly higher in the ID vs the non-ID group after 1 year (84% vs 68%, P < .05). By combining clinical and TDM data, we demonstrated that 37/38 responding patients had serum concentrations above the lower limit of the reference range (>10 µmol/L), and 16/17 with lower concentrations were non-responders. Mean serum concentration/dose ratios were similar in both groups, 0.06 and 0.07 µmol/L/mg. There were no significant differences regarding efficacy and tolerability. The risk of LCM withdrawal was significantly higher when LCM was added to sodium channel blockers, even if the latter was discontinued. SIGNIFICANCE: Lacosamide was generally well tolerated in patients with drug-resistant epilepsy, where one third had ID, and in these patients the retention rate was higher. The combination of clinical and TDM data could possibly facilitate LCM therapy in these vulnerable patients.


Assuntos
Anticonvulsivantes/efeitos adversos , Monitoramento de Medicamentos , Epilepsia/tratamento farmacológico , Lacosamida/efeitos adversos , Bloqueadores dos Canais de Sódio/efeitos adversos , Adolescente , Adulto , Anticonvulsivantes/uso terapêutico , Epilepsia/complicações , Feminino , Humanos , Deficiência Intelectual/complicações , Lacosamida/uso terapêutico , Masculino , Pessoa de Meia-Idade , Bloqueadores dos Canais de Sódio/uso terapêutico
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