Moderate ID Research Articles

Inherited PURA Pathogenic Variant Associated With a Mild Neurodevelopmental Disorder.

Purine-rich element-binding protein alpha (PURA) regulates gene expression and is ubiquitously expressed with an enrichment in neural tissues. Pathogenic variants in PURA cause the neurodevelopmental disorder PURA syndrome that has a variable phenotype but typically comprises moderate-to-severe global developmental delay, intellectual disability, early-onset hypotonia and hypothermia, epilepsy, feeding difficulties, movement disorders, and subtle facial dysmorphism. Speech is reportedly absent in most, but the specific linguistic phenotype is not well described. We used genome sequencing to identify a pathogenic gene variant as part of a study of children ascertained for severe primary speech disorder in the absence of moderate or severe ID. The novel PURA c.296G>T (p.Arg99Leu) pathogenic missense variant segregated in the female proband and her affected mother. The proband had dysarthria; phonological disorder; and severe receptive and expressive language impairment, borderline intellect, attention difficulties, oropharyngeal dysmotility, and dysmorphic facial features. Her mother had dysarthria, moderate receptive language impairment, and borderline intellect. Both the proband and her mother completed mainstream schooling with classroom support. This is the first inherited PURA pathogenic germline variant in over 600 unrelated families documented on ClinVar or reported in the literature. PURA testing should be considered in families with primary speech disorder and borderline intellectual disability, given the specific genetic counseling implications.

Spanish validation of the Glasgow depression scale for people with intellectual disabilities (GDS-LD) and of the Glasgow depression care supplement scale (GDS-CS)

PurposeThis study aims to validate a Spanish version of the Glasgow Depression Scale for Learning Disability (GDS-LD) and of the Glasgow Depression Care Supplement Scale (GDS-CS).Design/methodology/approachThe GDS-LD was administered to 120 adults with mild and moderate intellectual disabilities and the GDS-CS to the staff from their occupational workshops (n = 120) to detect symptoms of depression. Internal consistency, inter-rater reliability, test-retest reliability, criterion validity, construct validity and the feasibility and applicability of both scales were analysed.FindingsBoth scales showed an adequate internal consistency (GDS-LD, a = 0.86) (GDS-CS, a = 0.88). Exploratory factor analysis revealed four well-defined factors in GDS-LD and three in GDS-CS. Pearson correlation analysis data has also been carried out with both tools for test-retest and inter-rater, showing good correlations.Research limitations/implicationsIn terms, of limitations, the participants were recruited from the same centre, so this could be a problem in terms of generalisation. In addition, the GDS-LD and GDS-CS scales were developed for people with mild and moderate ID; it would be worth it to develop a version for people with severe and profound disabilities.Practical implicationsFrom its clinical perspective, it will be possible to have a specific tool that assesses the symptoms of depression in the Spanish population with ID. Furthermore, as it is a user-friendly scale; it can be administrated by both mental health and other professionals working in the field of disability.Originality/valueThe Spanish version of the GDS-LD and GDS-CS showed adequate rates of feasibility and reliability to assess symptoms depression among Spanish speaking adults with mild and moderate ID.

Adaptive Behavior in Slovak Children with Intellectual Disability in Institutional Care.

This study aimed to analyze the adaptive skills of children with intellectual disabilities in institutional care. We focused on communication, socialization, daily living skills and their relationship with risk factors, and institutional care. Our sample included 197 children aged 5-18 years (M = 12.8, SD = 2.97), 50% boys, with IQ < 85 placed in different types and lengths of stay in institutional care. There were 17% that presented with borderline intellectual functioning (IQ 84-87) and 83% that had intellect disabilities. Adaptive behavior (AB) was assessed by Vineland Adaptive Behavior Scale (VABS-3). The BIF and Mild ID groups did not differ in Socialization. The profile of adaptive behavior for BIF and Mild ID was Daily Living Skills > Communication > Socialization, and for Moderate and Severe ID, Socialization > Daily Living Skills > Communication. Longer institutional care was associated with lower competencies in AB. Gender differences were found, females overperformed males in Socialization, Daily Living Skills, and ABC score. Levels of ID, gender, length of stay in institutional care, and neonatal difficulties were significant predictors in the model which explain the 63% variance of AB. The practical implications of the results are discussed related to the assessment of ID, prevention, and care for institutionalized children.

Highlighting the Dystonic Phenotype Related to GNAO1.

BackgroundMost reported patients carrying GNAO1 mutations showed a severe phenotype characterized by early‐onset epileptic encephalopathy and/or chorea.ObjectiveThe aim was to characterize the clinical and genetic features of patients with mild GNAO1‐related phenotype with prominent movement disorders.MethodsWe included patients diagnosed with GNAO1‐related movement disorders of delayed onset (>2 years). Patients experiencing either severe or profound intellectual disability or early‐onset epileptic encephalopathy were excluded.ResultsTwenty‐four patients and 1 asymptomatic subject were included. All patients showed dystonia as prominent movement disorder. Dystonia was focal in 1, segmental in 6, multifocal in 4, and generalized in 13. Six patients showed adolescence or adulthood‐onset dystonia. Seven patients presented with parkinsonism and 3 with myoclonus. Dysarthria was observed in 19 patients. Mild and moderate ID were present in 10 and 2 patients, respectively.ConclusionWe highlighted a mild GNAO1‐related phenotype, including adolescent‐onset dystonia, broadening the clinical spectrum of this condition. © 2022 The Authors. Movement Disorders published by Wiley Periodicals LLC on behalf of International Parkinson and Movement Disorder Society

"Providing Sex Education Is Challenging": Malay Mothers' Experience in Implementing Sex Education to Their Children with Intellectual Disabilities.

Sex education (SE) is still a controversial and sensitive topic in Malaysia. Thus, individuals with intellectual disability receive less information about SE formally as Malaysian culture believes that students with disabilities should be shielded from everything connected to sexuality owing to their paucity of maturity and intellectual comprehension of the topic. Due to that reason, non-formal education by the parent is very important to fill that needful gap. This study aimed to explore the experience of mothers on the meanings of sexuality, and implementing sex education for their children with ID. We adopted a phenomenological framework and social cognitive theory to increase understanding of the phenomenon and conducted it using in-depth interviews. Twenty mothers with children aged 10–19 who were diagnosed with mild to moderate ID and/or other cognitive disabilities were involved. Almost all mothers acknowledged the influence of socio-cultural factors and religion on meanings of sexuality and practicing SE. They realized their children’s emerging sexual behavior as they go through the adolescence period. However, how they confronted sexuality and sex education with their vulnerable children was different. Three themes emerged: (1) Sexuality as an erotic experience in life, which enlightens mothers’ views on sexuality, relying mainly on sexual intimacy and sexual being; (2) Perceived their children’s sexual maturity is different, which reflects the mothers’ attitude toward their children’s sexual development; (3) Caution/hesitance in providing sexuality education, which summarizes mothers’ ways of delivering SE, either following physicality or through sociocultural ways. Our findings exemplify the need for strategies to increase parents’ understanding and awareness regarding sexuality and appropriate delivery of SE. To ensure its success, it should be a shared responsibility among all relevant stakeholders.

Improving Vocabulary Reading Skills with Word Card and Picture Card for Moderate Intellectual Disabilities

Teaching reading functional vocabulary to students with intellectual disability (ID’s) is a challenge for teachers in special schools. They face many obstacles in teaching vocabulary which are caused by various factors, especially student characteristics and learning structures that are less practical and tend to be academic. This study aims to measure the effectiveness of using word cards and picture cards to improve vocabulary reading skills in moderate ID’s students. The type of research applied is single subject research, with multiple baseline across subject designs. The research subjects were two moderately ID’s students in grade 5 and grade 2 SLB-C1 Bhakti Luhur Malang. An instructor and an observer played an important role in this study. The experimental instrument used is Lesson Plan which consists of three units, each teaching two vocabularies. Data analysis is carried out by performing graphical inspections that focus on trend, latency, and level changes. The effectiveness was confirmed by Percentage of All Non-overlapping Data (PAND) in the intervention condition against the baseline-1 condition. The results showed that with the intervention, the target behavior in the form of vocabulary understanding had a trend of grades rising gradually touching a high level of score, and settling at a high level in the baseline-2 condition. The average PAND for subject-1 reached 80.55 percent (effective), and subject-2 reached 96.67 percent (very effective).

RESULTS OF COMPETENCE FORMATION IN PARENTS OF CHILDREN WITH MODERATE INTELLECTUAL DISABILITIES.

The aim: To analyze the levels of competence formation in parents of senior preschoolers with moderate ID and to substantiate the obtained indicators for practical use. Materials and methods: The sample of the study was 162 persons: experimental group (EG) - parents (or persons substituting them) of 53 preschoolers with moderate ID - 96 persons (out of the total number, 12 children are brought up by mothers without fathers); control group (CG) - parents (or persons substituting them) of 41 preschoolers with MID - 66 persons (out of the total number, 16 children are brought up by mothers without fathers). Results: The use of Fisher's φ-criterion allowed to draw the following conclusions: first, at the ascertaining stage of the experiment the characteristics of the EG and CG according to certain indicators of parental competence were homogeneous (α=0.05). At the control stage - significantly different indicators of the experimental group (α=0.01). Secondly, positive changes in the identified characteristics in the EG and absence of such changes in the CG, gives grounds to argue about the effectiveness of implementation of the developed and presented in the experimental model forms, methods and conditions for the development of parental competence. Conclusions: Thus, despite almost identical indicators of competence levels in parents of the EG and CG at the ascertaining stage of the experiment, the molding stage testified to the specific advantage of representatives of the experimental group over representatives of the control group on levels of development of motivational-personal, gnostic, communicative-activity criteria of competence of parents of children with moderate ID.

Improving Vocabulary Reading Skills with Word Card and Picture Card for Moderate Intellectual Disabilities

Teaching reading functional vocabulary to students with intellectual disability (ID’s) is a challenge for teachers in special schools. They face many obstacles in teaching vocabulary which are caused by various factors, especially student characteristics and learning structures that are less practical and tend to be academic. This study aims to measure the effectiveness of using word cards and picture cards to improve vocabulary reading skills in moderate ID’s students. The type of research applied is single subject research, with multiple baseline across subject designs. The research subjects were two moderately ID’s students in grade 5 and grade 2 SLB-C1 Bhakti Luhur Malang. An instructor and an observer played an important role in this study. The experimental instrument used is Lesson Plan which consists of three units, each teaching two vocabularies. Data analysis is carried out by performing graphical inspections that focus on trend, latency, and level changes. The effectiveness was confirmed by Percentage of All Non-overlapping Data (PAND) in the intervention condition against the baseline-1 condition. The results showed that with the intervention, the target behavior in the form of vocabulary understanding had a trend of grades rising gradually touching a high level of score, and settling at a high level in the baseline-2 condition. The average PAND for subject-1 reached 80.55% (effective), and subject-2 reached 96.67% (very effective)

EXAMINING SCHOOL AND COMMUNITY PREPAREDNESS FOR TRANSITION OF YOUNG ADULTS WITH INTELLECTUAL DISABILITY FOR INDEPENDENT LIVING IN SELECTED COUNTIES, KENYA

<p>Despite the Government of Kenya’s commitment to provide education for all its citizens including those with disability, those with mild and moderate ID seem not to proceed for further education, training, employment and settling in their community after special or primary school. The main goal of the study was to examine the school and community preparedness for transition of young adults with mild and moderate intellectual disability for independent living in Kiambu and Murang´a counties, Kenya. The specific objectives of the study were investigated barriers to successful transition of young adults with intellectual disability for independent living and to establish the levels of independent living among young adult graduates with intellectual disability within the last five years in Kiambu and Murang’a counties. The study adopted descriptive research design which utilized both quantitative and qualitative research approaches. Target population was 239 headteachers, 405 SNE teachers, 1,200 young adults in school, 600 young adult graduates and 199 opinion leaders in 9 special schools and 230 special units. Purposive sampling method was used to select 120 young adult learners, 60 graduate, 30 headteachers and 20 opinion leaders while simple random sampling method was used to select 48 SNE teachers to participate in the study. This gave a total of 278 study respondents. Questionnaires and interview guides were used to collect data. The study established that dual diagnosis, assistance of taking medication independently, medical condition, running or wandering from home and loneliness were the main barriers to independent living for adult learners with ID. The study found out that the level of independent living was low among individuals with intellectual disabilities in the schools and units of study. After graduating from special schools and units, majority of learners with ID went back home and they were not engaging in any activity after school. Among the few who were engaging in activities after school, most of them were doing beadwork and weaving, hairdressing, farming, carpentry and dressmaking. Others were employed in their former schools/units as security guards. Graduation of the learners with intellectual disability was not considered as a very relevant process and hence most schools were not given any certification to learners with ID. This is despite most of the teachers and headteachers reporting that learners with ID graduated after learning the required skills. The study recommends that; the government through the Ministry of Education should create a special class in secondary schools for those in the borderline; provide policy that Ministries, NGOs, private sectors among others should employ young adults with ID to promote independent living.</p><p> </p><p><strong> Article visualizations:</strong></p><p><img src="/-counters-/edu_01/0466/a.php" alt="Hit counter" /></p>

Validation of a Revised Version of the Center for Epidemiologic Depression Scale for Youth with Intellectual Disabilities (CESD-ID-R).

This study proposes a revision (R) of the Center for Epidemiologic Studies Depression Scale for youth with ID (CESD-ID) in English and French. 346 youth (36.02% girls) with mild (51.26%) and moderate (48.78%) ID (11-22years; M = 15.69), enrolled in secondary schools in Canada (French-speaking; n = 115), and Australia (English-speaking; n = 231), as well as their parents and teachers, participated in this study. Results support the reliability, factor validity, equivalence (sex, ID level, comorbidities, and country), and convergent validity (with youth-, parent-, and teacher-rated measures of depression, anxiety, and loneliness/social isolation) of the CESD-ID-R. The CESD-ID-R allows youth with ID to provide a reliable and valid assessment of their depressive mood and happiness suitable for epidemiological studies.

Sedentary And Physical Activity Patterns In Children With Intellectual Disabilities: Differences Between Levels Of Intellectual Disability

PURPOSE: To analyze the potential severity difference of children with intellectual disabilities in sedentary patterns and physical activity (PA) levels. METHODS: A cross-sectional descriptive study was completed by 153 children with mild to severe ID (mild ID = 48, moderate ID =60, severe ID = 45) aged 8.0 to 14.0 years. Children wore an ActiGraph GT3+ accelerometer over a consecutive 7 days to assess minutes per day of sedentary time (ST), light physical activity (LPA) and moderate to vigorous physical activity (MVPA). A valid day was defined as recording at 8 hours of measured wear time between 7:00 am and 20:00 pm and non-wear time was defined as >60 min of consecutive zeros from Boddy’ s finding. The intensity cutoffs of the measured PA levels are as follows: LPA (<2,800 count per min (CPM)), MVPA (>4000 CPM) recommended for this population. Multivariate analysis of covariance (MANCOVA) was used to compare the ST and PA levels between different level of ID. RESULTS: Controlling for participants gender, age and BMI. ID level was significantly associated with ST, LPA and MVPA among children with ID, Pillai’s λ = 0.53, F(6,290) = 18.379, η2 = 0.28, p < 0.01. Children with severe ID (711.06 ± 28.84 min/day) had significantly longer ST than those with moderate ID (699.86 ± 123.94 min/day) and those with mild ID (642.64 ± 26.77 min/day). Children with severe ID (60.18 ± 22.18 min/day) had significantly lower LPA than those with moderate ID (76.59 ± 25.82 min/day) and those with mild ID (108.05 ± 26.54 min/day). Children with severe ID (20.75 ± 6.98 min/day) had significantly lower MVPA than those with moderate ID (38.55 ± 17.14 min/day) and those with mild ID (43.95 ± 14.70 min/day). CONCLUSIONS: ST, LPA and MVPA differ significantly among children with different levels of ID, with severer ID level had longer ST and lower PA levels. These findings suggest that population specific interventions are critical to promote physical activity levels and improve health in children with different levels of ID.

Infantile Iron Deficiency Affects Brain Development in Monkeys Even After Treatment of Anemia.

A high percent of oxidative energy metabolism is needed to support brain growth during infancy. Unhealthy diets and limited nutrition, as well as other environmental insults, can compromise these essential developmental processes. In particular, iron deficiency anemia (IDA) has been found to undermine both normal brain growth and neurobehavioral development. Even moderate ID may affect neural maturation because when iron is limited, it is prioritized first to red blood cells over the brain. A primate model was used to investigate the neural effects of a transient ID and if deficits would persist after iron treatment. The large size and postnatal growth of the monkey brain makes the findings relevant to the metabolic and iron needs of human infants, and initiating treatment upon diagnosis of anemia reflects clinical practice. Specifically, this analysis determined whether brain maturation would still be compromised at 1 year of age if an anemic infant was treated promptly once diagnosed. The hematology and iron status of 41 infant rhesus monkeys was screened at 2-month intervals. Fifteen became ID; 12 met clinical criteria for anemia and were administered iron dextran and B vitamins for 1–2 months. MRI scans were acquired at 1 year. The volumetric and diffusion tensor imaging (DTI) measures from the ID infants were compared with monkeys who remained continuously iron sufficient (IS). A prior history of ID was associated with smaller total brain volumes, driven primarily by significantly less total gray matter (GM) and smaller GM volumes in several cortical regions. At the macrostructual level, the effect on white matter volumes (WM) was not as overt. However, DTI analyses of WM microstructure indicated two later-maturating anterior tracts were negatively affected. The findings reaffirm the importance of iron for normal brain development. Given that brain differences were still evident even after iron treatment and following recovery of iron-dependent hematological indices, the results highlight the importance of early detection and preemptive supplementation to limit the neural consequences of ID.

Fragile X syndrome in young females: Influence of executive function on the neurocognitive profile and adaptive behavior

IntroductionThe aim of this study is to describe the relationship between executive function (EF) and performance in different areas of the neurocognitive profile in young girls with Fragile-X-Syndrome (FXS). MethodA neuropsychological assessment was carried out to 40 female participants aged 7–16 years (26 FXS, 14 control group). ResultsRegarding intellectual ability, in the group of girls with FXS 3.84 % of the participants obtained IQ scores in the range of moderate ID (IQ 35–40 to 49), 46.15 % in the range of mild ID (IQ 50–70), 38.46 % in the borderline range (IQ 70–85), and 11.53 % within the average range (IQ > 85). EF was found to have a greater influence on adaptive behavior, arithmetic ability, theory of mind, leadership, social integration, social competence, and anxiety/shyness in the group with FXS. ConclusionsIn girls with FXS, EF showed a greater influence on adaptive behavior, arithmetic ability, and social domain.

Validity and reliability of the 'Leisure Participation Observation' among adults with intellectual disabilities: A pilot study.

Individuals with intellectual disabilities have decreased leisure participation, affecting their health and well-being. Existing measures of leisure participation are primarily based on self- or proxy reports. This study describes the initial validity and reliability of Leisure Participation Observation (LPO), developed for individuals with ID. Two judge panels (N=10 each) completed a table of specifications for content validity. Reliability of the LPO was established on 38 individuals with moderate ID 25-45years old. This study established the content validity of the LPO. Additionally, weighted kappa showed moderate-high statistically significant inter-rater reliability (.667-.859, p<.01) and low-moderate, significant test-retest reliability, based on intraclass correlations (.226-.474, p<.05). Finally, results yielded moderate-high internal consistency (α=.74). The LPO shows promise as an observation tool for assessing leisure participation in the moderate ID population that may serve as the basis for developing intervention programmes.

Etiology of intellectual disability in individuals from special education schools in the south of Brazil

BackgroundIntellectual Disability (ID) is characterized by significant limitations that affect intellectual functioning, adaptive behavior, and practical skills which directly interfere with interpersonal relationships and the environment. In Western countries, individuals with ID are overrepresented in the health system, often due to associated comorbidities, and its life-time cost places ID as one of the most expensive conditions of all diagnoses in the International Classification of Diseases. Most of the people affected (75%) live in low-income countries, suffer from malnutrition, lack health care, and do not have access to adequate treatment. The aim of this study was to obtain an estimate of the diagnostic status as well as the prevalence of familial ID among individuals with serious (moderate or severe) ID in a region of the State of Santa Catarina, investigating attendees of special education schools of the Florianópolis Macroregion.MethodsThis was a cross-sectional study conducted between August 2011 and August 2014, through a semi-structured screening questionnaire for the collection of relevant developmental, clinical, familial and educational data, applied in an interview to guardians of students of special education schools of the macroregion of Florianópolis.ResultsThe participant special schools enrolled close to 1700 students during the study period and the questionnaire was applied to 849 (50.5%). The male to female ratio of the participants was 1.39:1. Clear etiologic explanations were relatively scarce (24%); most diagnoses referring only to the type and the degree of impairment and for the majority (61.4%) the cause was unknown. About half were sporadic cases within their families (considering three generations). For 44.2% at least one other case of an ID-related condition in the extended family was mentioned, with 293 (34.5%) representing potential familial cases.ConclusionHere we describe the epidemiological profile, the available diagnostics, etiology, family history and possible parental consanguinity of participants with ID of special education schools in the South of Brazil. The main results show the need for etiological diagnosis and uncover the relevance of potential hereditary cases in a population where consanguineous unions have a relatively low frequency (0,6%) and highlight the need for public health actions.

Promoting physical activity-related health competences in people with intellectual disability

Abstract Background Physical inactivity is a global health problem. Physically active people show lower rates of chronic diseases or mortality. People with intellectual disabilities (PWID), a vulnerable group for health problems, have significantly lower levels of physical activity (PA) than general population. Due to reduced cognitive abilities, communicative and literacy skills, PWID have less access to health programs. Target-group-oriented interventions are rare. Methods Methodological triangulation to survey PA-related health competences in all 3 subcategories: 3 participating observations and 24 interviews with PWID (inclusion criteria for both: mild or moderate ID); staff online survey (n = 67), all in an integration assistance institution. Participatory approach: 2 expert groups with PWID advise researchers e.g. validating results. Results As expected, movement abilities and body awareness various highly from general population. An effect knowledge is widely spread (PA = health), but execution knowledge of PA is only marginally available e.g. not knowing how to increase PA healthy. Control competences as results from interview and observations: intrinsic motivation is highly present (unlike results from staff survey), but volition - self-efficacy and bring into action - is very poor, self-management and a lack of ideas are identified as a major problem. Low expectation of self-efficacy proved to be the biggest obstacles for PA, but caregiver are an own health resource. Expert groups confirm important of PWID perspectives on living environment. Conclusions To promote a PA lifestyle, health education with a focus on promoting self-efficacy orientated to the living environment (incl. caregiver) regarding own perspectives and health resources is needed. In this way, a vulnerable group for health problems can be empowered. Results indicate a successful approach to promote PA-related health competences in PWID to minimize health inequalities in relation to general population. Key messages Health inequalities among people with intellectual disability through promoting a PA lifestyle can be minimized. Intervention for people with intellectual disabilities must take into account the perspectives and the resources of the users.

Validity of the Scale of Pervasive Developmental Disorder in a Clinical Sample of Adults with Intellectual Disability

The study assesses the diagnostic validity of the Scale of Pervasive Developmental Disorder in Mentally Retarded Persons (PDD-MRS). Unblinded conduct of PDD-MRS in a clinical psychiatric sample of adults with intellectual disability (ID; N = 109) and suspect of autism. For a cut-off-score of 10, sensitivity was 89 %, specificity 62 % and the Area Under the Curve (AUC) 0.83. The total score was independent of age, gender and level of ID. However the diagnostic validity was better balanced in adults with mild to moderate ID (sensitivity/specificity: 85 %/73 %) compared to those with severe to profound ID (93 %/42 %). The SEAS-M total score was correlated with various ASD screening measures (r = .3-.6), while no correlation was found for scales assessing challenging behavior. To conclude, the PDD-MRS is a screening instrument for diagnosing autism in adults with mild to moderate ID. Knowledge of the PDD-MRS results within the consensus conference may have led to an overestimation of its diagnostic validity.

Gross Motor Skills in Children with Cerebral Palsy and Intellectual Disability

Abstract Objectives The aim of this study is to determine the connection of gross motor skills (locomotor skills and object control) and the degree of associated intellectual disability (ID) in children with cerebral palsy (CP). Participants and methods The study sample included 54 children with CP and associated ID age 5 years to 6 years and 11 months. For the assessment of tested skills, The Gross Motor Function Classification System-Expanded and Revised (GMFCS-E&amp;R), Wechsler Preschool and Primary Scale of Intelligence-Fourth Edition (WPPSI-IV) and Test of Gross Motor Development Second Edition (TGMD-2) were used. Results The results of this study indicate better quality of locomotor skills than object control skills in children with CP and associated ID. Children with CP and mild ID have better quality of locomotor skills and object control, than children with CP and moderate ID. Differences between these 2 groups of children are presented relative to GMFCS-E&amp;R levels. Conclusion This study has determined significant interconnection of the quality of gross motor functions and intellectual capacity in preschool children with CP. This should be considered when creating more detailed individual developmental rehabilitation plan in children with CP and associated ID and predict adequate measures of developmental stimulation.

De novo and inherited variants in ZNF292 underlie a neurodevelopmental disorder with features of autism spectrum disorder

PurposeIntellectual disability (ID) and autism spectrum disorder (ASD) are genetically heterogeneous neurodevelopmental disorders. We sought to delineate the clinical, molecular, and neuroimaging spectrum of a novel neurodevelopmental disorder caused by variants in the zinc finger protein 292 gene (ZNF292). MethodsWe ascertained a cohort of 28 families with ID due to putatively pathogenic ZNF292 variants that were identified via targeted and exome sequencing. Available data were analyzed to characterize the canonical phenotype and examine genotype–phenotype relationships. ResultsProbands presented with ID as well as a spectrum of neurodevelopmental features including ASD, among others. All ZNF292 variants were de novo, except in one family with dominant inheritance. ZNF292 encodes a highly conserved zinc finger protein that acts as a transcription factor and is highly expressed in the developing human brain supporting its critical role in neurodevelopment. ConclusionDe novo and dominantly inherited variants in ZNF292 are associated with a range of neurodevelopmental features including ID and ASD. The clinical spectrum is broad, and most individuals present with mild to moderate ID with or without other syndromic features. Our results suggest that variants in ZNF292 are likely a recurrent cause of a neurodevelopmental disorder manifesting as ID with or without ASD.

Trends in Body Mass Index among Children with Mild and Moderate Intellectual Disabilities

In recent years, worldwide obesity has increased both in the adult as well as childhood populations. Research shows that obesity nowadays is associated with still younger age. What is currently becoming the focal point of attention is the prevalence of obesity in people with intellectual disabilities whose physical and mental limitations affect, to a certain degree, their daily lives. Nevertheless, there is a lack of data for the childhood population with intellectual disabilities.This research seeks to compare trends in BMI indicators and eating habits among children with mild and moderate intellectual disabilities who live with their families as opposed to those who are provided for at Children’s home in region Zlín in the Czech Republic. The research method used was quantitative and comparative research approached deductively. BMI indicators were determined by means of InBody analyser. Eating habits data were collected through a questionnaire of our own design which is standardly used in the Special Olympics Healthy Athlete Project. The BMI trends were observed in twelve children from two primary schools. We have concluded that children with mild ID who are provided for at the children’s home do not tend to be obesity, rather they have a proclivity to overweight or normal BMI and children with moderate ID have a proclivity to normal BMI or underweight. As emerged from case histories, only children with moderate ID living with their own families tend to have obesity or normal BMI but children with mild ID living with their own families tend to have overweight or normal BMI. Obesity and overweight are connected only with boys.Children’s weight remained the same within the existing BMI ranges. Summer holidays in children with mild ID and moderate ID living in children’s home had no verifiable effect on the BMI indicators. Children living in their own families had a subsequent weight rise before summer holiday (June 2017, June 2018) and a weight loss after holiday (September 2017, September 2018). Summer holiday influences the BMI indicators in children with mild ID and moderate ID living in their families. The research further shows that children with mild ID and moderate ID being cared for in the institutional environment have a healthier diet than children with mild ID and moderate ID living with their families.The conclusions of the research may serve as a recommendation for parents to pay more attention to their children’s diet as well as their physical activity.