Fetal alcohol spectrum disorders and communication abilities: family case report

Este estudo teve como objetivo caracterizar o perfil de habilidades comunicativas de cinco irmãos com Desordens do Espectro Alcoólico Fetal. O diagnóstico de Desordens do Espectro Alcoólico Fetal foi realizado a partir do histórico gestacional positivo para álcool e identificação de sinais clínicos. A avaliação fonoaudiológica constou da Observação do Comportamento Comunicativo, Escala de Desenvolvimento Comportamental de Gesell e Amatruda, Teste de Vocabulário por Imagens Peabody e avaliação audiológica. Todos os participantes apresentaram alterações nos comportamentos motor grosso, motor delicado, adaptativo, pessoal-social e de linguagem em graus variados. As habilidades comunicativas estavam comprometidas para todos os participantes e S4 apresentava comportamentos autísticos. As Desordens do Espectro Alcoólico Fetal foram confirmadas em S1, S2 e S5 e o diagnóstico de Síndrome Alcoólica Fetal foi confirmado para S3 e S4. Os resultados apresentaram variabilidade no desenvolvimento das habilidades de desenvolvimento dos irmãos com as Desordens do Espectro Alcoólico Fetal. A variabilidade dos achados, principalmente nas habilidades comunicativas e comportamentais, sugere a necessidade de acompanhar crianças com histórico de uso de álcool pela mãe, visto o impacto destas desordens no desenvolvimento global destes indivíduos, com impacto nas atividades de vida diária e escolaridade.The present study had the aim to characterize the communicative abilities profile of five siblings with Fetal Alcohol Spectrum Disorders. This diagnosis was carried out based on the positive report of prenatal alcohol exposure and identification of clinical signs. The Speech-Language Pathology evaluation consisted of the Communicative Behavior Observation, the Behavioral Development Scale of Gesell and Amatruda, the Peabody Picture Vocabulary Test, and hearing evaluation. Participants presented various degrees of alterations in gross motor, fine motor, adaptative, personal-social and language behaviors. The communicative abilities were altered for all the participants, and S4 presented autistic behaviors. Fetal Alcohol Spectrum Disorders were confirmed in S1, S2 and S5 and the diagnosis of Fetal Alcohol Syndrome was confirmed for S3 and S4. The results showed variability in the development of the studied abilities among the siblings with Fetal Alcohol Spectrum Disorders. The variability of the findings, especially in communicative abilities and behavior, suggests the need to follow-up children with reports of alcohol use by the mother, considering the impact of these disorders on these individuals' global development, including daily life activities and schooling

Macrossomia e habilidades auditivas: estudo comparativo

TEMA:macrossomia é o desvio positivo dos padrões de crescimento normal. OBJETIVO: devido à escassez de estudos das habilidades auditivas nas síndromes macrossômicas, este trabalho objetivou verificar e comparar o desempenho auditivo de dois pacientes e correlacioná-los aos achados complementares. MÉTODO: anamnese, avaliação audiológica, de linguagem, psicológica e de neuroimagem em dois sujeitos do gênero feminino, de oito e dezessete anos. RESULTADOS: sujeito I - normal, sujeito II - alterado. CONCLUSÃO: há uma crescente necessidade em investigar a neurofisiologia da audição nessa população, visto que estudos fonoaudiológicos poderiam propiciar o diagnóstico precoce, favorecendo o processo de intervenção.BACKGROUND:macrosomia is the positive deviation of normal growing standards. AIM: due to the lack of studies related to the auditory abilities in macrosomic syndromes, the aim of the present study was to verify and compare the auditory abilities of two patients and to correlate these results with other complementary findings. METHOD: anamneses, hearing, language, psychologic and neuroimage evaluation in two female subjects, eight and seventeen years old. RESULTS: subject I - normal; subject II - impaired. CONCLUSION: there is a growing need for more investigations of the neurophysiology of the auditory system in this population. Studies in the area of hearing can favor the early diagnosis and therefore the intervention process

A Mutation in the Vesicle-Trafficking Protein VAPB Causes Late-Onset Spinal Muscular Atrophy and Amyotrophic Lateral Sclerosis

Motor neuron diseases (MNDs) are a group of neurodegenerative disorders with involvement of upper and/or lower motor neurons, such as amyotrophic lateral sclerosis (ALS), spinal muscular atrophy (SMA), progressive bulbar palsy, and primary lateral sclerosis. Recently, we have mapped a new locus for an atypical form of ALS/MND (atypical amyotrophic lateral sclerosis [ALS8]) at 20q13.3 in a large white Brazilian family. Here, we report the finding of a novel missense mutation in the vesicle-associated membrane protein/synaptobrevin-associated membrane protein B (VAPB) gene in patients from this family. Subsequently, the same mutation was identified in patients from six additional kindreds but with different clinical courses, such as ALS8, late-onset SMA, and typical severe ALS with rapid progression. Although it was not possible to link all these families, haplotype analysis suggests a founder effect. Members of the vesicle-associated proteins are intracellular membrane proteins that can associate with microtubules and that have been shown to have a function in membrane transport. These data suggest that clinically variable MNDs may be caused by a dysfunction in intracellular membrane trafficking

Prevalence and nonrandom distribution of exonic mutations in interferon regulatory factor 6 in 307 families with Van der Woude syndrome and 37 families with popliteal pterygium syndrome

PURPOSE:: Interferon regulatory factor 6 encodes a member of the IRF family of transcription factors. Mutations in interferon regulatory factor 6 cause Van der Woude and popliteal pterygium syndrome, two related orofacial clefting disorders. Here, we compared and contrasted the frequency and distribution of exonic mutations in interferon regulatory factor 6 between two large geographically distinct collections of families with Van der Woude and between one collection of families with popliteal pterygium syndrome. METHODS:: We performed direct sequence analysis of interferon regulatory factor 6 exons on samples from three collections, two with Van der Woude and one with popliteal pterygium syndrome. RESULTS:: We identified mutations in interferon regulatory factor 6 exons in 68% of families in both Van der Woude collections and in 97% of families with popliteal pterygium syndrome. In sum, 106 novel disease-causing variants were found. The distribution of mutations in the interferon regulatory factor 6 exons in each collection was not random; exons 3, 4, 7, and 9 accounted for 80%. In the Van der Woude collections, the mutations were evenly divided between protein truncation and missense, whereas most mutations identified in the popliteal pterygium syndrome collection were missense. Further, the missense mutations associated with popliteal pterygium syndrome were localized significantly to exon 4, at residues that are predicted to bind directly to DNA. CONCLUSION:: The nonrandom distribution of mutations in the interferon regulatory factor 6 exons suggests a two-tier approach for efficient mutation screens for interferon regulatory factor 6. The type and distribution of mutations are consistent with the hypothesis that Van der Woude is caused by haploinsufficiency of interferon regulatory factor 6. On the other hand, the distribution of popliteal pterygium syndrome-associated mutations suggests a different, though not mutually exclusive, effect on interferon regulatory factor 6 function