SCAF4-related syndromic intellectual disability.

The causal link between variants in the SCAF4 gene and a syndromic form of intellectual disability (ID) was established in 2020 by Fliedner et al. Since then, no additional cases have been reported. We performed exome sequencing in a 16-year-old Brazilian male presenting with ID, epilepsy, behavioral problems, speech impairment, facial dysmorphisms, heart malformations, and obesity. A de novo pathogenic variant [SCAF4(NM_020706.2):c.374_375dup(p.Glu126LeufsTer20)] was identified. This is the second study reporting the involvement of SCAF4 in syndromic ID, and the description of the patient's clinical features contributes to defining the phenotypic spectrum of this recently described Mendelian disorder.

Perceptions of Siblings of People with Trisomy 21 on Family Relationships / Percepções de Irmãos de Pessoas com Trissomia 21 sobre as Relações Familiares

ABSTRACT: The birth of a child with a disability brings implications, changes in the environment and family dynamics. The family goes through a process of overcoming until the child acceptance with disability and the establishment of a suitable family environment that includes and meets his/her needs. Trisomy 21 (T21) is the most frequent genetic anomaly among those diagnosed. This study aimed to identify the perception of a sibling group of people with T21 regarding their family and social relationships. The sample consisted of 18 adolescents aged between 11 and 16 years, siblings of people with T21, and 17 guardians. Data collection occurred through semi-structured interviews conducted by video calls, with an average duration of 10 to 15 minutes. The interviews were recorded, transcribed and analyzed qualitatively based on the creation of thematic nuclei and categories. The results reinforce the importance of family relationships as a security factor and acceptance of the siblings' needs.

RESUMO: O nascimento de uma criança com deficiência traz implicações, mudanças no ambiente e na dinâmica familiar como um todo. A família passa por um processo de superação até a aceitação da criança com deficiência e a instalação de um ambiente familiar propício que a inclua e atenda às suas necessidades. A trissomia 21 (T21) é a anomalia genética mais frequente dentre as diagnosticadas. Este estudo teve como objetivo conhecer a percepção de um grupo de irmãos de pessoas com T21 quanto às suas relações familiares e sociais. A amostra foi composta por 18 adolescentes com idades entre 11 e 16 anos, irmãos de pessoas com T21 e 17 responsáveis. A coleta de dados ocorreu por meio de entrevista semiestruturada realizadas por meio de chamada de vídeo, com duração média de dez a 15 minutos. As entrevistas foram gravadas, transcritas e analisadas qualitativamente a partir da criação de núcleos temáticos e categorias. Os resultados reforçam a importância das relações familiares como um fator segurança e acolhimento das necessidades dos irmãos.

Down syndrome in adults: success and challenge / Síndrome de Down em adultos: sucessos e desafios

The estimated average survival of people with Down syndrome (DS) is currently over 50 years of age. This demographic finding warrants attention of health professionals who will care for an increasing number of adults with DS. Clinical evaluation of adults with DS should correlate characteristics inherent to the age group, especially the peculiarities produced by the syndrome. The present article proposes the development of preventive and vaccination programs ­ according to gender and age ­ and screening of diseases and conditions associated with the syndrome: 1) endocrine diseases; 2) cardiac diseases; 3) mental health; 4) dental care; 5) sensory organs; 6) osteoarticular abnormalities; 7) skin and appendages; 8) gastrointestinal diseases; and 9) cancer. However, there is scant information on the impact of comorbidities on life expectancy and quality of life or on the social and hospital costs of adults with DS.

A estimativa da sobrevida média de indivíduos com síndrome de Down (SD) passa atualmente dos 50 anos de idade. Esse dado demográfico justifica a atenção de profissionais da saúde que prestarão cuidados a um número crescente de adultos com SD. A avaliação clínica desse grupo de pacientes adultos deve correlacionar características inerentes à faixa etária, principalmente as peculiaridades produzidas pela síndrome. O presente artigo propõe o desenvolvimento de programas de prevenção e vacinação ­ conforme gênero e idade ­ e triagem de doenças e quadros associados à síndrome: 1) doenças endócrinas; 2) doenças cardíacas; 3) saúde mental; 4) saúde bucal; 5) órgãos sensoriais; 6) anomalias osteoarticulares; 7) pele e anexos; 8) doenças gastrointestinais; 9) câncer. Entretanto, há poucas informações sobre o impacto das comorbidades na expectativa de vida e na qualidade de vida, além dos custos hospitalares e sociais de adultos com SD.

Sexuality and persons with Down syndrome. A study from Brazil.

In recent years, important gains and changes have been observed in the life of teenagers with Down syndrome (DS) with increased inclusion into society. This review will discuss adolescence and sexuality in teenagers with DS from a descriptive study of 50 patients with DS between the ages of 10 and 20 years. The mean age was 13.5 years, 50% females; 86% went to school with 62.2% in school for over six years. Of the patients that attended school, 60% went to special education school and only 10% read and wrote correctly. In an evaluation of autonomy, 66% took showers, 78% performed their physiological needs, 77% intimate hygiene and 76% oral hygiene without help. 42% affirmed being able to do anything that is asked; 22% perform all tasks in the home; 10% felt they were incapable of doing anything and 4% used public transportation without help. 42% of the teenagers masturbated, 24% on a daily basis, 75% in private, and 25% in a public location. 42% had already kissed at a mean age of 12.9 years, mean age of the partner 16.1 years; 26.8% of these partners had DS. 82% found themselves attractive and 33% would not change anything in their appearance. We found that they presented normal development in the exercise of their sexuality, but with important difficulties in their autonomy and difficulties in school, needing careful interventions to make their social interaction the best possible. Their pubertal development was normal and they were satisfied with their body image with future perspectives of working, finding a partner, and living a normal life of getting married and having children.

Holoprosencephaly--report of two cases.

Holoprosencephaly (HPE) is a developmental defect resulting from incomplete cleavage of the embryonic forebrain structures during early embryogenesis. It includes a series of rare complex disorders. Chromosomal abnormalities, single gene disorders and teratogenic agents are responsible for holoprosencephaly. We report two rare cases of alobar HPE with a rudimental nasal structure (proboscis) located under the eyes. One of the patients survived for 9 months and the other one survived 40 days.