Physical Therapy Management of Wiedemann-Steiner Syndrome From Birth to 3 Years.

PURPOSE: To investigate Wiedemann-Steiner syndrome (WSS), its correlation to hypotonia and developmental delay, and to determine the relative intervention strategies that may be useful during early intervention from birth to 3 years. METHODS: A literature search using PEDro and PubMed was conducted using key words "Wiedemann-Steiner syndrome," "hypotonia," and "developmental delay" and a case study is presented. RESULTS: A 36-month-old child with WSS received PT intervention beginning at 2 months old. Addition of orthotics and treadmill walking was added at 13 and 19 months, respectively. The child progressed through developmental sequences from rolling, sitting, standing, and walking although consistently scored with motor delay of -2 SD. CONCLUSIONS: Fifty-seven percent of children diagnosed with WSS have hypotonia, and 90% have developmental delay. The diagnosis of WSS should require physical therapy services through early intervention programs due to its high correlation with motor developmental delay and disability. Determination of progress should be measured with achievement of function rather than norm-referenced outcome measures.Video Abstract: For more insights from the authors, access Supplemental Digital Content 1, available at: http://links.lww.com/PPT/A292.

Clinical aspects of congenital microcephaly syndrome by Zika virus in a rehabilitation center for patients with microcephaly.

OBJECTIVE: In this study, we intend to identify the prevalence of clinical variables in children with microcephaly. METHODS: This is a cross-sectional and observational study with data collected from medical records of patients admitted to the microcephaly outpatient clinic of a referral center in Teresina-PI. Demographic (gender and age) and clinical data (presence of epilepsy, dysphagia, irritability, and associated comorbidities) were collected. The frequency of Zika virus as a probable etiology was determined from computed tomography patterns and the exclusion of other etiologies by serological tests. RESULTS: A total of 67 patient records were evaluated, of which 31 were male and 36 were female, with a mean age of 1 year and 10 months. The most prevalent clinical variables were epilepsy, present in 47 children (70.2%), and irritability in 37 (55.2%). Also with a high frequency, 22 had dysphagia (32.8%), and 13 had musculoskeletal comorbidities (19.4%). Only three patients in the sample had cardiac abnormalities (4.5%), and no endocrine comorbidity was found. A total of 38 children in the sample (56.7%) presented ZIKV as a probable etiology and, in these cases, there was a higher frequency of epilepsy and dysphagia compared to other etiologies, although not statistically significant. CONCLUSION: Epilepsy, irritability, dysphagia, and musculoskeletal comorbidities were the most frequent clinical variables in children with microcephaly. There was a high prevalence of congenital ZIKV microcephaly syndrome in this sample.

Zika Virus After Emergency Response: Can the ICF Guide Rehabilitation of Children With Microcephaly?

The outbreak of Zika in Brazil almost 3 years ago had harmful medical, financial, and social consequences for children and their families. It also significantly increased the statistics of Brazilian children with disabilities being followed up in rehabilitation centers. Actions promoting the use of the International Classification of Functioning, Disability and Health (ICF) framework are encouraged in view of the complex health needs identified in this population, which cover all areas of functioning, and gain special relevance when it comes to a vulnerable context. This perspective article discusses the challenges related to the implementation of the ICF in rehabilitation services for children with congenital syndrome.

Clinical aspects of congenital microcephaly syndrome by Zika virus in a rehabilitation center for patients with microcephaly

SUMMARY OBJECTIVE In this study, we intend to identify the prevalence of clinical variables in children with microcephaly. METHODS This is a cross-sectional and observational study with data collected from medical records of patients admitted to the microcephaly outpatient clinic of a referral center in Teresina-PI. Demographic (gender and age) and clinical data (presence of epilepsy, dysphagia, irritability, and associated comorbidities) were collected. The frequency of Zika virus as a probable etiology was determined from computed tomography patterns and the exclusion of other etiologies by serological tests. RESULTS A total of 67 patient records were evaluated, of which 31 were male and 36 were female, with a mean age of 1 year and 10 months. The most prevalent clinical variables were epilepsy, present in 47 children (70.2%), and irritability in 37 (55.2%). Also with a high frequency, 22 had dysphagia (32.8%), and 13 had musculoskeletal comorbidities (19.4%). Only three patients in the sample had cardiac abnormalities (4.5%), and no endocrine comorbidity was found. A total of 38 children in the sample (56.7%) presented ZIKV as a probable etiology and, in these cases, there was a higher frequency of epilepsy and dysphagia compared to other etiologies, although not statistically significant. CONCLUSION Epilepsy, irritability, dysphagia, and musculoskeletal comorbidities were the most frequent clinical variables in children with microcephaly. There was a high prevalence of congenital ZIKV microcephaly syndrome in this sample.

RESUMO OBJETIVO Pretende-se, neste estudo, identificar a prevalência de variáveis clínicas em crianças com microcefalia. MÉTODOS Trata-se de um estudo transversal e observacional com dados coletados de prontuários de pacientes admitidos no ambulatório de microcefalia de um centro de referência em Teresina (PI). Foram coletados dados demográficos (gênero Ve idade) e clínicos (presença de epilepsia, disfagia, irritabilidade e comorbidades associadas). A frequência de Zika vírus como provável etiologia foi determinada a partir de padrões da tomografia computadorizada e da exclusão de outras etiologias por exames sorológicos. RESULTADOS Foram avaliados 67 prontuários de pacientes, sendo 31 do sexo masculino e 36 do sexo feminino, com idade média de 1 ano e 10 meses. As variáveis clínicas mais prevalentes foram epilepsia, presente em 47 das crianças (70,2%), e irritabilidade, em 37 (55,2%). Também com elevada frequência, 22 possuíam quadro de disfagia (32,8%) e 13 apresentavam comorbidades osteomusculares (19,4%). Apenas três pacientes da amostra tinham quadro de alterações cardiológicas (4,5%) e nenhuma comorbidade endocrinológica foi encontrada. Trinta e oito crianças da amostra (56,7%) apresentaram ZIKV como provável etiologia e, nesses casos, houve maior frequência de epilepsia e disfagia em comparação com outras etiologias, embora não de forma significativa estatisticamente. CONCLUSÕES Epilepsia, irritabilidade, disfagia e comorbidades osteomusculares foram as variáveis clínicas mais frequentes em crianças com microcefalia. Houve uma prevalência alta de síndrome de microcefalia congênita por ZIKV nessa amostra.

CT Epidemiologia 21/03/16: Microcefalia e/ou alterações do SNC ESPII

Aedes aegypti precursor do Zika Virus e a intervenção da fisioterapia na microcefalia: revisão sistemática / Aedes aegypti precursor of Zika Virus and the intervention of physiotherapy in microcephaly: a systematic review

O Zika Vírus ocasionou um grande número de casos de microcefalia, sendo esta uma má formação cerebral que resulta em sequelas neurológicas. O objetivo deste estudo foi verificar a relação da transmissão do Zika vírus, suas consequências neurológicas e a ação da fisioterapia. Foi realizada uma revisão bibliográfica com busca de artigos científicos em base de dados (Lilacs, Medline, Scielo) com os seguintes descritores: Microcefalia, Zika vírus, Fisioterapia, Reabilitação. A microcefalia é uma anomalia craniofacial que resulta na malformação do sistema nervoso central (SNC), tal alteração estrutural interfere diretamente no desenvolvimento geral da criança. A fisioterapia intervém no auxílio contra os efeitos desta patologia, pois estende seu conhecimento a parte neurológica, muscular e biomecânica. Os dados expostos neste trabalho possibilitaram uma melhor visualização sobre a problemática abordada, visto que os autores concluem que há uma associação do zika vírus com os casos de microcefalia.

The Zika Virus has caused a large number of cases of microcephaly, which is a brain malformation that results in neurological sequelae. The aim of this study was to verify the relationship between Zika virus transmission, its neurological consequences and the action of physical therapy. A bibliographic review was carried out with the search for scientific articles in the database (Lilacs, Medline, Scielo) with the following descriptors: Microcephaly, Zika virus, Physiotherapy, Rehabilitation. Microcephaly is a craniofacial anomaly that results in malformation of the central nervous system (CNS), such a structural alteration directly interferes with the child's general development. Physiotherapy intervenes in helping against the effects of this pathology, as it extends its knowledge to the neurological, muscular and biomechanical part. The data exposed in this work provided a better view on the problem addressed, since the authors conclude that there is an association between the Zika virus and cases of microcephaly.

Diretrizes de estimulação precoce: crianças de zero a 3 anos com atraso no desenvolvimento neuropsicomotor decorrente de microcefalia

Traz orientações aos profissionais de saúde quanto ao acompanhamento e ao monitoramento do desenvolvimento infantil, estimulação precoce, matriciamento às equipes de saúde e orientação às famílias de crianças com atraso no desenvolvimento neuropsicomotor decorrente de microcefalia e/ou outros agravos.

Agenesia del cuerpo calloso. Discordancia clínico-radiológica. Análisis tras 15 años de experiencia / Agenesis of the corpus callosum. Clinical-radiological discordance. Analysis after 15 years of experience

Introducción. La agenesia del cuerpo calloso (ACC) supone una desconexión interhemisférica por falta de formación de dicha estructura en el desarrollo embrionario. Prevalencia: 0,3-0,5% en población general y 2,3% en personas con discapacidad. Se asocia a prematuridad y edad materna avanzada. Clínica muy variable.Puede confirmarse con RMN. Nuestro objetivo es determinar: 1) la correlación entre las anomalías del CC en neuroimagen y en la clínica y 2) averiguar factores influyentes en estas diferencias. Material y métodos. Estudio retrospectivo (15 años) de casos de ACC de una Unidad de Rehabilitación Infantil. Los datos epidemiológicos, clínicos e imaginológicos recogidos se confrontaron entre sí y se compararon con la bibliografía. Resultados. El 75% eran mujeres. La edad media de la primera y última revisión, fue 1,8 y 10,7 años, respectivamente. Los motivos de consulta principales fueron alteraciones ortopédicas o neuromotoras. No existían antecedentes obstétricos de interés en el 75%. En la clínica, encontramos: retraso psicomotor (37%), alteración del lenguaje (31%), dificultad para marcha o la manipulación (57%), malformaciones axiales (25%). Las patologías periféricas predominantes se dieron en pies y caderas. La prueba complementaria más frecuentemente solicitada fue la RMN. El 75% asociaba otras malformaciones cerebrales.Tratamiento prescrito: fisioterapia (100%), férulas (75%), silla de ruedas (50%), tratamiento logopédico y/o quirúrgico (25%). Evolución: 87% favorable. Conclusiones. 1) La RMN puede ayudar al diagnóstico inicial y despistaje de malformaciones asociadas, pero no siempre se correlaciona con la clínica y no puede servirnos de medidor pronóstico. 2) La ACC puede ser grave a nivel neurológico, psicológico y motriz, sin embargo, en ocasiones cabe esperar una evolución favorable (AU)

Introduction. The agenesis of the corpus callosum (ACC) implies an interhemispheric disconnection due to the lack of formation of said structure in the embryo development. Prevalence: 0.3-0.5% in the general population and 2.3% on in persons with disability. It is associated to prematurity and older maternal age. The clinical variable varies greatly and can be confirmed with the MRI. Our objective has been to determine 1) the correlation between abnormalities in neuroimaging and in the clinical features and 2) to discover the factors influencing these differences. Material and methods. A retrospective study (15 years) of cases of ACC in a Children's Rehabilitation Unit. The epidemiological, clinical and imaging data collected were compared to each other and with the literature. Results. A total of 75% were women. Average age of the first and last check-up was 1.8 and 10.7 years, respectively. The main reasons of the consultations were orthopedic or neuro-motor disorders. There were no obstetric backgrounds of interest (75%). At the clinical features, we found psychomotor retardation (37%), language disturbance (31%), difficulty to walk or with manual handling (57%), axial malformations (25%). The predominant peripheral neuropathy occurred in feet and hips. The most frequently requested complementary test was an MRI. A total of 75% were associated with other brain malformations. Treatment prescribed: physiotherapy (100%), splints (75%), wheelchair (50%), speech therapy treatment and/or surgery (25%). Evolution: 87% favorable. Conclusions. 1) MRI can help the initial diagnosis and screening of associated malformations, but does not always correlate with the clinical features and cannot be used by us to gauge prognosis. 2) The ACC may be serious on the neurological, psychological and motor level, however sometimes we can expect a favorable outcome (AU)

Expected and actual behavioural capacity after diffuse reduction in cerebral cortex: a review and suggestions for rehabilitative techniques with the mentally handicapped and head injured.

Expectations of residual function (and of potential therapeutic outcome) after brain damage are important factors in the selection of rehabilitation programmes. Drawing upon reports of what we call here association learning and memory in humans and animals, it is shown that this type of learning remains intact and may be mediated by subcortical brain structures, despite the often severe cognitive blunting which accompanies diffuse cortical brain damage. In retarded humans the application of association learning-based behaviour modification techniques may lead to the development of an adequate behavioural base-line on which to develop cognitive rehabilitation programmes. The implications of potentially valid neuropsychological extrapolations from animals to man are discussed. Finally suggestions are made concerning the interaction between association learning and more cognitive information-processing strategies, and the implications for behaviour modifications with retarded and head injured are considered.

Differential reinforcement of correct responses to probes and prompts in picture-name training with severely retarded children.

A systematic sequence of prompt and probe trials was used to teach picture names to three severely retarded children. On prompt trials the experimenter presented a picture and said the picture name for the child to imitate; on probe trials the experimenter did not name the picture. A procedure whereby correct responses to prompts and probes were nondifferentially reinforced was compared with procedures whereby correct responses to prompts and probes were differentially reinforced according to separate and independent schedules of primary reinforcement. In Phase 1, correct responses to prompts and probes were reinforced nondifferentially on a fixed ratio (FR) 6 or 8 schedule; in Phase 2, correct responses to prompts were reinforced on the FR schedule and correct responses to probes were reinforced on an FR schedule of the same value; in Phase 3, correct responses to prompts were reinforced on the FR schedule and correct responses to probes were reinforced on a continuous reinforcement (CRF; every correct response reinforced) schedule; in Phase 4, correct responses to prompts were reinforced on a CRF schedule and correct responses to probes were reinforced on the FR schedule; in Phase 5, a reversal to the conditions of Phase 3 was conducted. For all three children, the FR schedule for correct responses to prompts combined with the CRF schedule for correct responses to probes (Phases 3 and 5) generated the highest number of correct responses to probes, the highest accuracy (correct responses relative to correct responses plus errors) on probe trials, and the highest rate of learning to name pictures.