Developmental Disabilities: What Every Health Care Professional Needs to Know

LEARNING OBJECTIVES At the end of this session, the learner should be able to discuss core principles of typical childhood development describe the approach to a child with possible developmental delay compare and contrast the clinical presentation, evaluation, and management of three representative developmental disabilities: intellectual disability, autism, and cerebral pals

A systematic review of the published literature on team-based learning in health professions education

<p><b>Purpose:</b> Summarize the published literature on team-based learning (TBL) in health professions education (HPE) using the TBL conceptual framework to identify gaps that can guide future research</p> <p><b>Methods:</b> PubMed, Web of Science, ERIC, and Google Scholar were searched through May 2016 for English-language articles regarding the use of TBL in HPE. Reviewers independently extracted data and coded for the seven elements in Michaelsen’s Model of TBL.</p> <p><b>Results:</b> A total of 118 articles met inclusion criteria. The number of articles published yearly on TBL has grown steadily, more than tripling between 2011 and 2016. Most studies (55; 47%) involved undergraduate medical students and took place in the US (72; 61%). The most commonly studied framework component was Teacher and Learner Attitudes (97; 82%). Other commonly studied elements included Learning Outcomes (85; 72%) and Team Characteristics (25; 21%). Contextual Factors affecting TBL was addressed in one study.</p> <p><b>Conclusions:</b> A substantial body of literature examines the effect that TBL has on traditional measures of achievement. However, many dimensions of TBL have not been well studied, including Teacher Decisions about TBL, Contextual Factors that affect TBL, Learners’ Engagement, and Pattern of Engagement within Teams. Future research in these areas could determine the best use of TBL in HPE.</p

Clinical heterogeneity of mitochondrial NAD kinase deficiency caused by a NADK2 start loss variant

Mitochondrial NAD kinase deficiency (NADK2D, OMIM #615787) is a rare autosomal recessive disorder of NADPH biosynthesis that can cause hyperlysinemia and dienoyl-CoA reductase deficiency (DECRD, OMIM #616034). NADK2 deficiency has been reported in only three unrelated patients. Two had severe, unremitting disease; one died at 4 months and the other at 5 years of age. The third was a 10 year old female with CNS anomalies, ataxia, and incoordination. In two cases mutations in NADK2 have been demonstrated. Here, we report the fourth known case, a 15 year old female with normal intelligence and a mild clinical and biochemical phenotype presumably without DECRD. Her clinical symptoms, which are now stable, became evident at the age of 9 with the onset of decreased visual acuity, bilateral optic atrophy, nystagmus, episodic lower extremity weakness, peripheral neuropathy, and gait abnormalities. Plasma amino acid levels were within normal limits except for mean lysine and proline levels that were 3.7 and 2.5 times the upper limits of normal. Whole exome sequencing (WES) revealed homozygosity for a g.36241900 A>G p. Met1Val start loss mutation in the primary NADK2 transcript (NM_001085411.1) encoding the 442 amino acid isoform. This presumed hypomorphic mutation has not been previously reported and is absent from the v1000GP, EVS, and ExAC databases. Our patient's normal intelligence and stable disease expands the clinical heterogeneity and the prognosis associated with NADK2 deficiency. Our findings also clarify the mechanism underlying NADK2 deficiency and suggest that this disease should be ruled out in cases of hyperlysinemia, especially those with visual loss, and neurological phenotype

Response to Newman et al

Orientador: Jaime WojciechowskiTrabalho (Graduação) - Universidade Federal do Paraná, Setor de Educação Profissional e Tecnológica, Curso de Tecnologia em Análise e Desenvolvimento de Sistemas

Phenotypic manifestations of copy number variation in chromosome 16p13.11

The widespread clinical utilization of array comparative genome hybridization, has led to the unraveling of many new copy number variations (CNVs). Although some of these CNVs are clearly pathogenic, the phenotypic consequences of others, such as those in 16p13.11 remain unclear. Whereas deletions of 16p13.11 have been associated with multiple congenital anomalies, the relevance of duplications of the region is still being debated. We report detailed clinical and molecular characterization of 10 patients with duplication and 4 patients with deletion of 16p13.11. We found that patients with duplication of the region have varied clinical features including behavioral abnormalities, cognitive impairment, congenital heart defects and skeletal manifestations, such as hypermobility, craniosynostosis and polydactyly. These features were incompletely penetrant. Patients with deletion of the region presented with microcephaly, developmental delay and behavioral abnormalities as previously described. The CNVs were of varying sizes and were likely mediated by non-allelic homologous recombination between low copy repeats. Our findings expand the repertoire of clinical features observed in patients with CNV in 16p13.11 and strengthen the hypothesis that this is a dosage sensitive region with clinical relevance