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The Individual with Disabilities Education Act (IDEA) mandates that a transition plan be in place for students with disabilities by the time they turn 16. This plan aims to facilitate the child’s movement from high school “to post-school activities, including postsecondary education, vocational education, integrated employment (including supported employment), and continuing and adult education, adult services, independent living, or community participation,” (20 U.S. C. 1401 (34)). Despite these mandates, studies have shown that youth with disabilities are having poor post-school outcomes when compared to their peers (Lindsay at el., 2019; Lipscomb et al., 2018; Rowe et al., 2021; Test, Mazzotti et al., 2009). Occupational therapy practitioners (OTP) are well situated to collaboratively work as part of the Individualized Education Plan (IEP) team with transition planning (Kardos & White, 2005). The OTP is distinctly qualified to assist the IEP team with developing goals, improving activities of daily living, assisting with staff and student training, and determining student occupational interests. Transition interventions are a widely variable and unregulated area of practice for school-based OTPs. Opportunity Café represents a solution to the problem of poor post-school outcomes for students with intellectual and developmental disabilities (IDD). This transition intervention applies evidenced based practices to guide education teams, students, and families through the transition planning process. It fulfills a need mandated by the IDEA for IEP teams to support the transition needs of students with IDD and provides an inclusive workplace to facilitate growth. Opportunity Café is a dynamic community-based replicable program that can impact student success. Program guidelines, methods for program dissemination, evaluation, and funding are discussed.

Previous research suggests that careproviders' attitudes and perceptions significantly influence the type and quality of services received by institutionalized adults with developmental disabilities (IADD). This study explored attitudes careproviders hold concerning training needs of the IADD and their service model orientation. It traced the history of training people with developmental disabilities and provided a brief review of the medical, developmental, and normalization models of service delivery. The conceptual framework upon which this study was based proposed that staff perceptions and orientation concerning service delivery to the IADD can be conceptually related to five factors in a research model. They were identified as: (a) careprovider's characteristics; (b) working environment; (c) previous careprovider experience; (d) developmental disability history within the careprovider's family; and (e) self-reporting of a service delivery orientation. This study examined only a portion of this model (factors a, b, and e). The response sample included 370 professionals and paraprofessionals, aged 17 to 72 years, who were employed at a large residential facility serving individuals with developmental disabilities in Denton, Texas. The respondents were predominantly female (76.5%), Caucasian (72.2%) with slightly less than 75% having more than a high school diploma. The instrument, a self-administered questionnaire, consisted of three parts; Careprovider's Service Model Orientation; Careprovider's Perception of Training Needs; and, Demographic Information. Data were analyzed through the use of regression, chi square, and analysis of variance tests. Findings revealed several significant relationships between: professional status and perceptions of training needs of the IADD; professional status and service model orientation; professional status and reported service model orientation; professional status and attitude toward the medical model; and, professional status and attitude toward the developmental model. Significant relationships were not found for four additional hypotheses that were included the study.

Mutações inativadoras do receptor de GnRH (GNRHR) são a causa genética mais frequente de hipogonadismo hipogonadotrófico isolado (HHI) normósmico. Os genes envolvidos da patogênese do HHI, incluindo o GNRHR, estão associados a um amplo espectro fenotípico, variando de HHI parcial a completo. O atraso constitucional do crescimento e desenvovimento (ACCD) poderia constituir uma variante fenotípica leve do HHI. Neste estudo avaliamos a frequência de mutações no gene GNRHR em pacientes com HHI normósmico e ACCD, bem como correlacionamos o genótipo/fenótipo nesses pacientes. Além disso, avaliamos o efeito fundador de uma mutação do GNRHR (p.R139H) frequente na população brasileira com HHI normósmico. Para esse estudo, selecionamos 116 pacientes com HHI normósmico e 51 com ACCD. Um grupo de 130 indivíduos com desenvolvimento puberal normal foi utilizado como controle. A região codificadora do gene GNRHR foi amplificada por PCR e sequenciada. Análises in silico e in vitro foram realizadas nas duas novas variantes (p.V134G e p.Y283H). Três marcadores de microssatélites (D4S409, D4S2387, D4S3018) foram amplificados e analisados nos pacientes portadores da mutação p.R139H, familiares e controles. No grupo de HHI normósmico, nove mutações (p.N10K,p.Q11K, p.Q106R, p.R139H, p.C200Y, p.R262Q, p.Y284C, p.Y283H, p.V134G) foram identificadas em onze pacientes (9,5%). Entre as mutações identificadas no GNRHR, duas foram descritas pela primeira vez no estudo atual: p.Y283H e p.V134G, cuja análise in vitro demonstrou inativação completa do receptor. Em geral, uma boa correlação genótipo-fenótipo foi observada. Pacientes portadores de mutações inativadoras apresentavam HHI completo e mutações com perda parcial de função causavam HHI parcial, incluindo dois pacientes que evoluíram com reversão do hipogonadismo após reposição androgênica. Por outro lado, não houve diferença fenotípica entre os casos com e sem mutação do GNRHR. Análise de ancestralidade genética da mutação p.R139H demonstrou que todos os casos brasileiros apresentaram o mesmo haplótipo, sugerindo que a mutação p.R139H possui um ancestral comum na população brasileira. Por outro lado o caso familial proveniente da Polônia apresentou apenas um marcador em comum com as famílias brasileiras e estudos mais abrangentes seriam necessários para determinar a origem da mutação p.R139H em indivíduos não Brasileiros. Na casuística de ACCD apenas a mutação p.Q106R foi identificada no gene GNRHR em heterozigose em um paciente. Em conclusão, o GNRHR foi o gene mais comumente afetado, apresentando uma boa correlação genótipo-fenótipo, e deve ser o primeiro candidato para análise genética em HHI normósmico. Os resultados sugerem que a mutação p.R139H possui um ancestral comum na população brasileira. Mutações no GNRHR parecem não estar envolvidas na patogênese do ACCD / GnRH receptor (GNRHR) inactivating mutations are the most common genetic cause of normosmic IHH. The genes involved in the IHH, including GNRHR, have been associated with a large phenotypic spectrum, varying from partial to complete IHH. Constitutional delay of growth and puberty (CDGP) might represent a mild phenotypic variant of IHH. In this study we investigated novel variants and characterized the frequency and phenotype-genotype correlation of GNRHR mutations in normosmic IHH and CDGP patients. Additionally, we determined de cause of the recurrence of GNRHR p.R139H mutation in patients with normosmic IHH. We studied 116 patients with normosmic IHH and 51 with CDGP. The control group was composed by 130 adults with normal pubertal development. The coding region of GNRHR was amplified and automatically sequenced. The two novel variants identified (p.Y283H, p.V134G) were submitted to in silico and in vitro analysis. Three microsatellite markers (D4S409, D4S2387, D4S3018) were amplified by PCR and analyzed in the patients with the p.R139H mutation. In the CDGP group, the previously described mutation p.Q106R was identified in the heterozygous state in one boy. The p.Q106R mutation has been identified in heterozygous state in individuals with normal pubertal development and does not appear be involved on the CDGP phenotype in this patient. In the normosmic IHH group, nine variants were identified (p.N10K, p.Q11K, p.Q106R, p.R139H, p.C200Y, p.R262Q, p.Y284C, p.Y283H, p.V134G) in eleven patients (9.5%). In vitro analysis of the novel variants p.Y283H and the p.V134G demonstrated that both of them cause complete loss of function of the receptor. The founder effect study revealed that all the p.R139H affected Brazilian patients presented the same haplotype, suggesting that the this mutation has a common ancestor in the Brazilian population. Nevertheless the affected Polish family presented a different haplotype, with only one marker in common with the Brazilian families and further studies would be necessary to determine the origin of the p.R139H mutation in the European population. In conclusion this study demonstrated that GNRHR was the most commonly affected gene in normosmic IHH, with a good genotype-phenotype correlation, and should be the first candidate gene for genetic screening in this condition. The results of the founder effect study suggested that the p.R139H mutation has a common ancestor in the Brazilian population. Finally, mutations in the GNRHR do not appear to be involved in the pathogenesis of CDGP

Individuals with intellectual and developmental disabilities (IDD) are prone to certain diseases in their lifetime, such as osteoporosis. Absorption of calcium is essential to maintaining good bone health and preventing osteoporosis. This study examined primary care providers’ (PCPs) choice of calcium supplementation, as well as type of calcium supplementation, and the relationship between variables in the IDD population. Ten PCPs were asked to complete a 14-question web-based survey, with five surveys completed. Calcium citrate was the preferred supplement among respondents at 50%. Retrospective data was collected from patient records and included type of calcium supplement prescribed, bone density test results, and other variable factors. The type of calcium supplement prescribed did not affect bone density results in subjects with IDD. There was a weak significance between calcium supplement type and gender and vitamin D. It is of modest benefit to include vitamin D with calcium supplementation to enhance calcium absorption.

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Early reading literacy is foundational to all other academic learning. It is imperative that elementary students with and without disabilities be provided with evidence-based reading instruction. Elementary students with developmental disabilities (DD) and complex communication needs (CCN) benefit from evidence-based reading instruction that incorporates individualized, explicit instruction and appropriate assistive technology. Research to identify evidence-based practices for students with DD and CCN is necessary to assist teachers to close the gap in overall achievement for this group of learners. The purpose of this study was to determine the efficacy of the early reading program Go Talk Phonics (Ahlgrim-Delzell, Browder, &Wood, 2014) that incorporated evidence-based systematic instruction delivered through assistive technology to teach reading to elementary students ( n = 2 ) with DD and CCN. The two participants in this single-case designed study did not make adequate progress toward the objectives of Lesson One of the intervention in order to continue on to Lessons Two and Three. Although the participants in this study were less successful in the objectives of the lesson than participants in the Ahlgrim-Delzell et al., (2014) study, there were differences in the participants, assistive technology, and design of the experiment. Important considerations were revealed when selecting academic interventions for students with CCN and DD. Assessment of broader aspects of the students' skills and literacy experience, as well as differential reinforcement procedures specific to instructional demands may be necessary to see gains from instruction.

Challenging behaviors such as hitting, kicking, screaming, destruction of property and other socially-inappropriate behaviors are common among children with significant disabilities. Behavior Parent Training (BPT), which is based on basic principles of Applied Behavior Analysis (ABA), has been shown to be effective in reducing these problem behaviors. Traditional approaches to BPT have typically emphasized consequence-based interventions, however, advances in the field of ABA (e.g., FBA, antecedent-based interventions) and PBS have led to more strategies that are more effective in complex community environments. Evidence of such practices is emerging but has not been adequately documented. The current study evaluated the use of a standardized PBS protocol in decreasing problem behaviors of four children with developmental disabilities. The success of the parent education protocol was evaluated using a multiple baseline across participants design. Results of this study showed that after participating in parent education using a standardized protocol, participants' children displayed decreases in problematic behavior as well as increases in adaptive behavior, for all but one of the participants.