Intelectual disability

BACKGROUND: Non-therapeutic hysterectomy in girls and adolescents with intellectual disability (ID) is an acceptable practice, even when there is a lack of prescriptive ethical reason. OBJECTIVES: To determine the magnitude of the practice of hysterectomy in girls and adolescents with ID, and explore the emic factors associated with this procedure. MATERIAL AND METHODS: Multicenter, intersectoral study with a mixed methods design. RESULTS: The quantitative results showed that 50 of 234 reported hysterectomies corresponded to females with ID...

INTRODUCTION: Motor compromise characterizes cerebral palsy (CP), and is often associated with intellectual disability (ID). Standardized classification systems have been developed to describe the functions of people with CP. The aim was to functionally characterize children and adolescents aged 0 to 18 years with CP in Argentina and to investigate the association between motor compromise (GMFCS), ID and functional classifications. METHODS: Cross-sectional study...

Currently, Whole exome sequencing (WES) using NGS (Next-generation sequencing) technology is one of the most requested genetic studies within the approach of patients with intellectual disability with or without other anomalies. As with other procedures and clinical studies, it is convenient for prescribing physicians to have a clear understanding of the scope and limitations of the use of WES, the analysis process of the genetic variants identified, as well as aspects to be evaluated regarding quality and structure of the reports of the NGS studies, with the aim that they can better interpret the results of a study, evaluate its quality, and propose in the best way the correlation of the same with the observed phenotype...

INTRODUCTION: Intellectual disability (ID) is a neurodevelopmental disorder characterized by limitations in intellec tual and adaptive functioning, of various etiologies, including genetic causes. OBJECTIVE: to describe genetic studies carried out in a series of children and adolescents with ID of previously undetermined etiology, considering their phenotypic characteristics. PATIENTS AND METHOD: Descriptive study of a series of patients with ID aged 6 to 18 years...

INTRODUCCIÓN: El síndrome de Rett es un trastorno del neurodesarrollo con una frecuencia estimada de 1/10,000 recién nacidos vivos, el cual se presenta con un modelo de herencia ligado al cromosoma X. Las variantes patogénicas en el gen MECP2, el cual codifica para una proteína que participa en el desarrollo y la diferenciación del sistema nervioso central, causan este síndrome. El objetivo de este trabajo fue describir dos casos de síndrome de Rett, uno de ellos con una nueva variante del gen MECP2...

Intellectual disability is a neurodevelopmental condition characterised by cognitive deficits and functional impairments in adaptive behaviour that occur during development. It should be noted that this generates a variety of symptomatology, which is why it is considered by neuropsychology as an axis of analysis. In this regard, emphasis will be placed on why neuropsychological screening is necessary in this condition. Such relevance lies, on the one hand, in determining whether the child's disability is due to alterations in the nervous system or to unfavourable conditions of the environment in which he/she develops...

The implementation of educational actions, including sexual violence prevention, aimed to promoting the sexual rights of young individuals with intellectual disabilities, can be characterized as a huge challenge in the services that assist this population. This article aims to validate, with expert judges, educational technology aimed at sexual abuse prevention among young individuals with ID. This is a content and display validation study, performed with 25 judges. The information was collected through a questionnaire, considering the domains: objective, relevance, structure and presentation...

Intellectual disability (ID) is a developmental disorder characterized by deficits in intellectual functioning and adaptive behavior. The fifth edition of the Diagnostic and statistical manual of mental disorders (DSM-5) defines adaptive functioning as a severity measure of ID. The availability of tests in the international context to assess this construct has increased in recent years. In Brazil, however, non-systematic assessment of adaptive functioning, such as through observation and interviews, still predominates...

Intellectual disability syndrome (IDS) associated with a hereditary persistence of fetal haemoglobin (HbF), also known as Dias-Logan syndrome, is commonly characterised by psychomotor developmental delay, intelectual disability, language delay, strabismus, thin upper lip, abnormalities of external ears, microcephaly, downslanting palpebral fissures. Sporadically, autism spectrum disorders and blue sclerae in infancy have been reported in IDS. Rarely, IDS-affected patients present with epilepsy and/or epileptic syndromes...

Menstrual hygiene in adolescents with intellectual disability (ID) represents an extra burden for parents or primary caregivers, especially in developing countries, where social institutions, including the health system, lack the capability to help this group of teenagers and their families; hence, hysterectomy to eliminate menstrual bleeding is considered a morally acceptable resource. Hysterectomy to solve the "problem" of menstrual hygiene reflects obstacles that affect the care provided by the physician to the adolescent with ID: on one hand, the criterion of social value about a "poor quality of life," and on the other, discrimination when only socioeconomic conditions are considered rather than the lack of a social network of support and special education...

AIM: to design a model and assess the effectiveness of endurance exercise to increase physical fitness in intelectual disability (ID) patients with obesity. METHODS: a randomized-controlled clinical trial was performed in ID patients with obesity aged 10-30 years old from all Special School in DKI Jakarta, which were randomly allocated into 3 groups and then given 3 different type of exercises: lower extremity muscles endurance exercise for 20 RM followed by cardiorespiratory endurance exercise for 24-25 minutes (type I), lower extremity muscles endurance exercises for 10 RM followed by cardiorespiratory endurance exercises for 26-27 minutes (type II), and threw a tennis ball with 10 m distance for 10 minutes as control (type III)...

UNLABELLED: Down Syndrome (DS) is the most common genetic cause of mental retardation, with a reported frequency of epilepsy between 1.4-17% (1). There is a paucity of data in the literature regarding epilepsy in Down syndrome and its relation to intellectual disability. OBJECTIVES: The purpose of this article is to analyze the association of epilepsy in children with DS - frequency and type of seizures, treatment, outcome and to compare cognitive impairment of children with DS and epilepsy and DS without epilepsy from our cohort...

AIM: To assess the prevalence of signs and symptoms related to TMJ disorders in a group of young people with intelectual disability (ID) and a matched group of healthy adolescents. MATERIALS AND METHODS: A group of 105 young Special Olympics (SO) athletes (ID group) aged from 14 to 25 years and a control group were examined for the presence or absence of signs and symptoms of TMD through interview and clinical examination. RESULTS: A total of 64 young people with ID (61%) had at least one sign of TMD compared to 41 (39%) of the individuals screened that was free of any TMD symptoms...

The authors evaluated 51 consecutive children with NF1 (aged eight to 16 years) to determine the frequency of intelectual impairment and learning disability due to NF1 alone, the profile of learning disabilities and the effect of clinical variables. 40 children completed the full assessment protocol. There was no support for a profile of predominantly visuoperceptual deficits in the NF1 population. There was no discrepancy between verbal and performance IQ, and the deficits in function were wide ranging. Clinical variables such as age, sex, socio-economic status, disease severity, macrocephaly and family history of NF1 were not associated with cognitive deficits...