Intellectual Disability Individuals Research Articles

Efficacy of clozapine versus standard treatment in adult individuals with intellectual disability and treatment-resistant psychosis (CLOZAID): study protocol of a multicenter randomized clinical trial.

Intellectual disability (ID) affects approximately 1% of the worldwide population and individuals with ID have a higher comorbidity with mental illness, and specifically psychotic disorders. Unfortunately, among individuals with ID, limited research has been conducted since ID individuals are usually excluded from mental illness epidemiological studies and clinical trials. Here we perform a clinical trial to investigate the effectiveness of clozapine in the treatment of resistant psychosis in individuals with ID. The article highlights the complexity of diagnosing and treating psychopathological alterations associated with ID and advocates for more rigorous research in this field. A Phase IIB, open-label, randomized, multicenter clinical trial (NCT04529226) is currently ongoing to assess the efficacy of oral clozapine in individuals diagnosed with ID and suffering from treatment-resistant psychosis. We aim to recruit one-hundred and fourteen individuals (N=114) with ID and resistant psychosis, who will be randomized to TAU (treatment as usual) and treatment-with-clozapine conditions. As secondary outcomes, changes in other clinical scales (PANSS and SANS) and the improvement in functionality, assessed through changes in the Euro-QoL-5D-5L were assessed. The main outcome variables will be analyzed using generalized linear mixed models (GLMM), assessing the effects of status variable (TAU vs. Clozapine), time, and the interaction between them. The treatment of resistant psychosis among ID individuals must be directed by empirically supported research. CLOZAID clinical trial may provide relevant information about clinical guidelines to optimally treat adults with ID and treatment-resistant psychosis and the benefits and risks of an early use of clozapine in this underrepresented population in clinical trials. Clinicaltrials.gov: NCT04529226. EudraCT: 2020-000091-37.

A novel variant in NSUN2 causes intellectual disability in a Chinese family

NSUN2-intellectual disability syndrome, also known as intellectual disability type 5 (MRT5), is an autosomal recessive disorder that is characterized by intellectual disability (ID), postnatal growth retardation, dysmorphic facies, microcephaly, short stature, developmental delay, language impairment and other congenital abnormalities. The disease is caused by mutations in the NSUN2 gene, which encodes a tRNA cytosine methyltransferase that has an important role in spindle assembly during mitosis and chromosome segregation. In this study, we recruited a family that had two individuals with ID. Whole exome sequencing was performed to identify a homozygous frameshift variant (c.1171_1175delACCAT(p.Thr391fs*18*)) in NSUN2 (NM_017755.5) in the proband. The varint was confirmed as segregating in his affected brother and his parents by Sanger sequencing. The individuals that we described showed a similar dysmorphology profile to that associated with MRT5. To analyze the correlations between genotypes of NSUN2 and phenotypes of individuals with ID, we examined 17 variants and the associated phenotypes from 32 ID individuals in current and previous studies. We concluded that mutations in NSUN2 cause a wide range of phenotypic defects. Although some clinical manifestations were highly variable, the core phenotypes associated with NSUN2 mutations were dysmorphic facies, microcephaly, short stature, ID, growth restriction, language impairment, hypotonia and delayed puberty. Our study expands the genetic spectrum of NSUN2 mutations and helps to further define the genotype-phenotype correlations in MRT5.

Inclusive Hiring through Technology: A Recruitment Platform for Individuals with Intellectual Disabilities

The current world development has been characterised by an increase in technology as people are currently interacting at a very high pace, and this includes individuals who have neurological and intellectual disabilities, including Down’s Syndrome, Asperger, Autism Spectrum Disorder, Learning Disability and Mental Retardation. The project develops a digital job search product for individuals with ID. This study presents ‘Workability’, a digital platform designed to support individuals with intellectual disabilities (ID) in India, striving to create an inclusive environment and facilitate improved job placements and social participation. Applying User-Centered Design (UCD) principles, the research involved collaboration with ID individuals, corporate employers, and vocational training centres. The methodology encompassed a preliminary study, in-depth stakeholder interviews, and surveys, culminating in a digital interface that offers accessible, customisable features such as speech-to-text and image recognition capabilities. Feedback from a diverse participant pool of over 60 individuals in the initial phase and 25 in subsequent phases informed iterative design enhancements. Results indicate that ‘Workability’ significantly empowers ID individuals by enabling easier access to employment opportunities and fostering community integration. The project concludes that by leveraging technology to capitalise on the abilities and preferences of ID individuals, it is possible to reshape the scope of employment and social engagement for this demographic, advocating for a more inclusive society in India. The project’s core objective is to make the prevailing system more inclusive, where people with ID will not be marginalised solely based on their condition but fully integrated into societies through the provision of streamlined and specialised placement services for employment that capitalise on their abilities and preferences.

Effects of 6-week Circuit Training on Anaerobic Performance and Simple Reaction Time in Individuals with Intellectual Disability (ID) in Kelantan State

Participation in exercise benefits health and fitness among Intellectual Disability (ID) individuals. Circuit training is one of the exercise programme that can be tailored by manipulating the intensity, time and types of exercise. The purpose of the present study is to examine the effects of six weeks of circuit training on anaerobic fitness and simple reaction time in ID individuals. Thirty participants with mild to moderate ID were selected from individuals who are registered with the Pusat Pemulihan dalam Komuniti (PDK) and Yayasan Orang Kurang Upaya (YOKUK) in the Kelantan state. Participants were randomly divided into Circuit Training and Control groups. Participants in Circuit Training group followed a circuit training exercise programme, two times per week for six weeks, whereas participants in Control group were not involved in circuit training and carried out their regular activities. The anaerobic peak power was significantly decreased (. < 0.001) in Control group after six weeks. The anaerobic power of post-test was significantly improved (p = 0.042) from the pre-test in Circuit Training group and it was also significantly higher (p = 0.001) than Control group. There were no significant differences for the anaerobic capacity and simple reaction time between and within groups. Circuit training can be conducted to enhance anaerobic power in ID individuals, however longer participation may be needed to improve anaerobic capacity and simple reaction time. Keywords: Anaerobic performance; Circuit training; Reaction time

Commentary: The origins of intellectual disability.

Despite the importance and prevalence of intellectual disability (ID), its origins have not been well understood until now. Lichtenstein et al. report in this issue findings from a population‐based sample four times larger than all previous family studies of ID put together (Lichtenstein et al., 2022). From more than four million people, 37,787 individuals were identified with ID. Relative risks (RRs) are reported for relatives of ID probands (55,000 first‐degree, 55,000 second‐degree, and 170,000 third‐degree) as compared with matched relatives of individuals without ID. These relatives plus 400 pairs of twins in which at least one twin was diagnosed with ID yield an astonishing estimate of 95% heritability with no evidence for shared environmental influence in their model. Another important finding is that maternal half‐siblings of ID individuals were at greater risk than paternal half‐siblings, a maternal effect that could indicate X‐chromosome linkage. Finally, profound and severe ID is etiologically distinct from the normal distribution, due in part to noninherited (de novo) genetic mutations and chromosomal abnormalities. However, 90% of individuals with ID are moderate or mild, and these represent the low end of the normal distribution of genetic influence on cognitive ability, which has important implications for DNA research on ID.

Familial risk and heritability of intellectual disability: a population-based cohort study in Sweden.

Intellectual disability (ID) aggregates in families, but factors affecting individual risk and heritability estimates remain unknown. A population-based family cohort study of 4,165,785 individuals born 1973-2013 in Sweden, including 37,787 ID individuals and their relatives. The relative risks (RR) of ID with 95% confidence intervals (95% CI) were obtained from stratified Cox proportional-hazards models. Relatives of ID individuals were compared to relatives of unaffected individuals. Structural equationmodeling was used to estimate heritability. Relatives of ID individuals were at increased risk of ID compared to individuals with unaffected relatives. The RR of ID among relatives increased proportionally to the degree of genetic relatedness with ID probands; 256.70(95% CI 161.30-408.53) for monozygotic twins, 16.47(13.32-20.38) for parents, 14.88(12.19-18.16) for children, 7.04(4.67-10.61) for dizygotic twins, 8.38(7.97-8.83) for full siblings, 4.56(4.02-5.16) for maternal, 2.90(2.49-3.37) for paternal half-siblings, 3.03(2.61-3.50) for nephews/nieces, 2.84(2.45-3.29) for uncles/aunts, and 2.04(1.91-2.20) for cousins. Lower RRs were observed for siblings of probands with chromosomal abnormalities (RR 5.53, 4.74-6.46) and more severe ID (mild RR 9.15, 8.55-9.78, moderate RR 8.13, 7.28-9.08, severe RR 6.80, 5.74-8.07, and profound RR 5.88, 4.52-7.65). Male sex of relative and maternal line of relationship with proband was related to higher risk (RR 1.33, 1.25-1.41 for brothers vs. sisters and RR 1.49, 1.34-1.68 for maternal vs. paternal half-siblings). ID was substantially heritable with 0.95(95% CI 0.93-0.98) of the variance in liability attributed to genetic influences. The risk estimates will benefit researchers, clinicians, families in understanding the risk of ID in the family and the whole population. The higher risk of ID related to male sex and maternal linage will be of value for planning and interpreting etiological studies in ID.

Phenotypic Characterization of Intellectual Disability Caused by MBOAT7 Mutation in Two Consanguineous Pakistani Families.

A homozygous in-frame deletion (c. 758_778del; p. Glu253_Ala259del) in membrane-bound O-acyltransferase family member 7 (MBOAT7), also known as lysophosphatidylinositol acyltransferase (LPIAT1), was previously reported to be the genetic cause of intellectual disability (ID) in consanguineous families from Pakistan. Here, we identified two additional Pakistani consanguineous families with severe ID individuals sharing the same homozygous variant. Thus, we provide further evidence to support this MBOAT7 mutation as a potential founder variant. To understand the genotype-phenotype relationships of the in-frame deletion in the MBOAT7 gene, we located the variant in the fifth transmembrane domain of the protein and determined that it causes steric hindrance to the formation of an α-helix and hydrogen bond, possibly influencing its effectiveness as a functional transmembrane protein. Moreover, extensive neuropsychological observations, clinical interviews and genetic analysis were performed on 6 patients from the 2 families. We characterized the phenotype of the patients and noted the serious outcome of severe paraplegia. Thus, optimal management for symptom alleviation and appropriate screening in these patients are crucial.

Perspectives of adults with intellectual disabilities and key individuals on community participation in inclusive settings: A Canadian exploratory study

ABSTRACT Background: This article aims to present the results of a study on the facilitators and obstacles to community participation in inclusive settings for people with intellectual disabilities (ID) in Québec City (Canada), as perceived by adults with ID and key individuals involved in their daily lives. Method: Semi-structured interviews were conducted, followed by an inductive thematic analysis process. Results: Twenty participants shared their perspectives on the factors that influence community participation of adults with ID in inclusive settings. Overall, they revolved around physical and financial accessibility, openness of the members of the groups attended, as well as the adaptations and support provided to promote the people’s active participation. Conclusions: Offering social support and interventions that truly help adults with ID create meaningful relationships is crucial. Training community members is also fundamental to creating environments where people with ID can feel that they belong.

Validation of a Tool to Assess Attitudes Towards Sexuality of Individuals with Intellectual Disability (ASEXID): A Preliminary Study

The high prevalence of people with Intellectual Disability (ID) fosters the recognition of their health, work, and social needs. However, few studies have focused on the assessment of their affective and sexual needs (a basic personal need and universal right). Even though the current literature suggests changes in social attitudes toward this population, it is unclear whether these changes have actually occurred and their impact on the development of healthy and non-stigmatized sexuality. This question is particularly relevant due to the lack of a sound measure to assess this shift in the social consideration of the sexuality of people with ID. Thus, this preliminary study focuses on the design and validation of a reliable measure to assess attitudes toward the sexuality of people with Intellectual Disability. This study comprises 1103 participants (43.3% men; 56.7% women) between 20 and 92 years old, classified into three groups: parents or relatives of people with ID, professionals working with ID individuals, and the general population. Results from Exploratory Factor Analysis (EFA) yielded three factors explaining 49.19% of the scale variance: Normalizing Attitudes (NOR-A), Negative Attitudes (NEG-A), and Paternalistic Attitudes (PAT-A). This three-factor structure was subsequently confirmed through Confirmatory Factor Analysis (CFA). Regarding internal consistency, Cronbach’s alpha values ranged between 0.66 and 0.86. In conclusion, this research demonstrates that the ASEXID is useful and reliable for the assessment of relatives’, professionals’, and societal attitudes toward the sexuality of people with ID, contributing to the assessment of a potential paradigm shift in attitudes toward the affective sexual education of people with this condition.

Does the number of trials affect the reliability of handgrip strength measurement in individuals with intellectual disabilities?

The main objectives of this study were to examine which testing protocol (one/two/three trials) and method (best/average value) used for determining maximal handgrip strength is more reliable for individuals with intellectual disabilities (ID) and to compare the reliability and variability of maximal handgrip strength measurement between individuals with ID and healthy individuals. Twenty individuals with ID (18.7±3.3 years) and 20 healthy individuals (18.5±3.4 years) performed six separate sessions. During these sessions, the participants’ maximal handgrip strength was evaluated using three protocols with different number of trials (one/two/three). In individuals with ID, the protocols with one and two trials were less reliable (ICC=0.78–0.95; SEM%=9–21) than the protocol with three trials (ICC=0.94–0.96; SEM%=8–10) whereas in healthy individuals all protocols were equally reliable (ICC=0.95–0.99; SEM%=1.9–4.9). In individuals with ID, the mean of three trials (ICC=0.96, SEM=1.19–1.35kg, SEM%=8.2–8.7) had slightly higher reliability than the best of three trials (ICC=0.94, SEM=1.47–1.75kg, SEM%=9.2–10.1). Furthermore, the variability of maximal handgrip strength measurement was about twofold higher in individuals with ID (CV=37–45%) vs. healthy individuals (CV=21–23%). Maximal handgrip strength can be measured reliably in young individuals with ID using the mean of three trials as the most reliable approach for the determination of maximal handgrip strength.

A Brazilian cohort of individuals with Phelan-McDermid syndrome: genotype-phenotype correlation and identification of an atypical case

BackgroundPhelan-McDermid syndrome (PMS) is a rare genetic disorder characterized by global developmental delay, intellectual disability (ID), autism spectrum disorder (ASD), and mild dysmorphisms associated with several comorbidities caused by SHANK3 loss-of-function mutations. Although SHANK3 haploinsufficiency has been associated with the major neurological symptoms of PMS, it cannot explain the clinical variability seen among individuals. Our goals were to characterize a Brazilian cohort of PMS individuals, explore the genotype-phenotype correlation underlying this syndrome, and describe an atypical individual with mild phenotype.MethodologyA total of 34 PMS individuals were clinically and genetically evaluated. Data were obtained by a questionnaire answered by parents, and dysmorphic features were assessed via photographic evaluation. We analyzed 22q13.3 deletions and other potentially pathogenic copy number variants (CNVs) and also performed genotype-phenotype correlation analysis to determine whether comorbidities, speech status, and ASD correlate to deletion size. Finally, a Brazilian cohort of 829 ASD individuals and another independent cohort of 2297 ID individuals was used to determine the frequency of PMS in these disorders.ResultsOur data showed that 21% (6/29) of the PMS individuals presented an additional rare CNV, which may contribute to clinical variability in PMS. Increased pain tolerance (80%), hypotonia (85%), and sparse eyebrows (80%) were prominent clinical features. An atypical case diagnosed with PMS at 18 years old and IQ within the normal range is here described. Among Brazilian ASD or ID individuals referred to CNV analyses, the frequency of 22q13.3 deletion was 0.6% (5/829) and 0.61% (15/2297), respectively. Finally, renal abnormalities, lymphedema, and language impairment were found to be positively associated with deletion sizes, and the minimum deletion to cause these abnormalities is here suggested.ConclusionsThis is the first work describing a cohort of Brazilian individuals with PMS. Our results confirm the impact of 22q13 deletions on ASD and several comorbidities, such as hypotonia. The estimation of a minimal deletion size for developing lymphedema and renal problem can assist prediction of prognosis in PMS individuals, particularly those diagnosed in early infancy. We also identified one atypical individual carrying SHANK3 deletion, suggesting that resilience to such mutations occurs. This case expands the clinical spectrum of variability in PMS and opens perspectives to identify protective mechanisms that can minimize the severity of this condition.

A pilot study on machine learning approach to delineate metabolic signatures in intellectual disability

Intellectual disability (ID) is a neurodevelopmental disorder characterized by cognitive delays. Inborn errors of metabolism constitute an important subgroup of ID for which various treatments options are available. We aimed to identify potential biomarkers of inherited metabolic disorders from the children with ID using tandem mass spectrometry and develop a novel machine learning algorithm to differentiate between the cases and the controls. All of the cases were having IQ score <70, gross motor delay, speech disorder and no recognizable symptoms of the condition. Metabolite profiling of ID individuals exhibited low tyrosine/large neutral amino acids, high citrulline/arginine ratios; elevated proline, alanine, phenylalanine, and ornithine, while a significant decrease in the level of amino acid arginine, and elevated C4 (butyrylcarnitine) and C4OH/C3DC (3-hydroxybutyrylcarnitine/malonylcarnitine). Machine learning algorithm differentiated cases and controls efficiently using specific thresholds of ornithine, arginine and C4OH/C3DC. Furthermore, ID cases were distinguished into mild, moderate, and severe based on specific thresholds of methionine, arginine, and C5OH/C4DC (3-hydroxyisovalerylcarnitine/methylmalonylcarnitine). The machine learning algorithm could successfully identify specific metabolite markers in ID and correlate the same with neurological features.

Prejudices towards people with intellectual disabilities: reliability and validity of the Italian Modern and Classical Prejudices Scale.

Prejudices and negative attitudes towards intellectual disabilities (IDs) may hinder social inclusion of ID individuals, limiting their well-being. This study investigated the psychometric characteristics of the Italian Modern and Classical Prejudices Scale (MCPS-IT) towards people with ID and the effects of gender, age and socio-economic status (SES) on prejudices. The MCPS-IT was administered to 474 adults (69% women, age range 18-70years, M=33.13) in conjunction with a questionnaire evaluating socio-demographic information (SES), the contact and the education about ID people and the social dominance orientation. Results confirmed that Italian MCPS has a two-factor structure that measures in a reliable and valid way prejudice towards people with ID. Multivariate analyses of variance confirmed a weak gender difference in both scales and age differences in modern scale. No SES differences were found. The Italian MCPS represents a valid scale that can be used to monitor the social context of people with ID.

Expressed emotion and impulsiveness in mothers of children with Fragile X Syndrome and Down Syndrome: The relation to behavioral problems in their offspring

BackgroundFragile X Syndrome (FXS) and Down Syndrome (DS) are common causes of Intellectual Disability (ID). Mothers of individuals with FXS sometimes have the premutation condition which makes them display neurocognitive signs, such as impulsiveness impairments, while mothers of DS individuals, as a group, do not have impairments. Although behavior problems in individuals with ID may be related to high Expressed Emotion (EE) in parents, parenting in families with ID members has been little explored. AimTo explore the relationship between a mother’s EE and impulsiveness, in mothers of individuals with FXS and DS, with behavior problems in their offspring. MethodA questionnaire was developed to collect data about impulsiveness and EE in mothers, along with information about behavior problems in ID individuals. ResultsEE scores were associated with behavior problems in their offspring for both samples. Mothers with the premutation showed higher scores in EE than mothers of DS individuals. However, impulsiveness scores were not different between both parental groups, and were related to EE scores. ConclusionsEE is a parental feature that is possible to modulate and seems to be related to behavior problems in ID individuals. More research should be carried on to create interventions to reduce this attitude in parents of ID individuals.

A novel de novo heterozygous deletion at 13q14.2-q21.1 in two siblings with mild intellectual disability

Intellectual disability (ID) is characterized by limited intellectual functioning and adaptive behavior, with a global prevalence of ~1–2%. Around 50% of ID cases have a genetic basis, with chromosomal and single gene mutations accounting for ~17–19% and rare de novo copy number variations (CNVs) for ~15% of the total cases. Thus, ~30–50% of the cases still remain unexplained. We investigated a north-eastern Indian family with two male children affected with mild syndromic ID. Both the affected siblings were first screened for mutations in genes implicated with syndromic ID on clinical suspicion (NHS and OCRL) in this family and found to be negative. Further, CNV analysis was carried out in the family using HumanCytoSNP-12 oligonucleotide array. Analysis revealed a 9.8 Mb de novo heterozygous deletion at 13q14.2-q21.1 that was shared among the affected siblings but not with their unaffected brother and parents. The deletion was confirmed by using quantitative-PCR which revealed a significant loss in copy number in both the affected siblings. This region encompasses genes functionally relevant to the ID phenotype, such as CKAP2, SUGT1, LECT1, DCLK1and SMAD9. A range of deletions spanning 13q13.3-13qter with variable phenotypes and haploinsufficiency have been reported in literature, but a de novo heterozygous deletion shared among siblings as seen in this study is very rare. Though the mechanism underlying this deletion remains unknown, our finding reiterates the notable contribution of this chromosomal region to ID, warranting more such studies to identify genetic underpinnings underlying ID. Such discoveries would lead to more personalized treatment regimens for ID individuals.

A retrospective comparison of dental treatment under general anesthesia on children with and without mental disabilities

The purpose of this study is to determine the properties of the dental procedures performed on children with dental problems under general anesthesia and compared between the patterns of dental treatment provided for intellectual disability and non-cooperate healthy child. In this retrospective study, the records of patients between the ages of 4 and 18 who were treated under general anesthesia were evaluated. Patients were divided into two groups: Those with intellectual disability and healthy patients who had difficulty cooperating. A statistical analysis of the mean standard deviation was conducted with a focus on two factors: Age and dental treatment methods. In this study, it was observed that restorative treatment and tooth extraction was generally higher in intellectual disability children than in their healthy children. When evaluating the health status of teeth, the value of decayed missing and filled teeth (dmf-t) was observed to be close in healthy and intellectual disability individuals in the 4-6 age groups; it was higher in individuals with intellectual disability in the 7-12 age groups. There was no significant difference in terms of periodontal treatment and fissure sealants in the 12-18 age groups. By comparing the different patient groups who received dental treatment under general anesthesia, both the number of teeth extracted and DMF-T indices were higher in the disabled group. Therefore, especially more efforts should be made at encouraging these patients to visit the dentist earlier and receive primary preventive care.

Neuromuscular fatigue during high-intensity intermittent exercise in individuals with intellectual disability

This study examined neuromuscular fatigue after high-intensity intermittent exercise in 10 men with mild intellectual disability (ID) in comparison with 10 controls. Both groups performed three maximal voluntary contractions (MVC) of knee extension with 5 min in-between. The highest level achieved was selected as reference MVC. The fatiguing exercise consists of five sets with a maximal number of flexion-extension cycles at 80% of the one maximal repetition (1RM) for the right leg at 90° with 90 s rest interval between sets. The MVC was tested again after the last set. Peak force and electromyography (EMG) signals were measured during the MVC tests. Root Mean Square (RMS) and Median Frequency (MF) were calculated. Neuromuscular efficiency (NME) was calculated as the ratio of peak force to the RMS. Before exercise, individuals with ID had a lower MVC (p<0.05) and a lower RMS (p<0.05). No significant difference between groups in MF and NME. After exercise, MVC decreases significantly in both groups (p<0.001). Individuals with ID have greater force decline (p<0.001 vs. p<0.01). RMS decreased significantly (p<0.001) whereas the NME increased significantly (p<0.05) in individuals with ID, but both remained unchanged in controls. The MF decreased significantly in both groups (p<0.001). In conclusion, individuals with ID presented a lower peak force than individuals without ID. After a high-intensity intermittent exercise, individuals with ID demonstrated a greater force decline caused by neural activation failure. When rehabilitation and sport train ID individuals, they should consider this nervous system weakness.

Emotional development in adults with autism and intellectual disabilities: a retrospective, clinical analysis.

Individuals with intellectual disability (ID) are at risk for additional autism spectrum disorders (ASD). A large amount of research reveals deficits in emotion-related processes that are relevant to social cognition in ASD. However, studies on the structure and level of emotional development (ED) assessing emotional maturity according to the normative trajectory in typically developing children are scares. The level of ED can be evaluated by the ‘Scheme of Appraisal of Emotional Development’ (SAED), a semi-structured interview with a close caregiver. The SAED assesses the level of emotional developmental based on a five stage system in 10 domains, for example, ‘interaction with peers’ or ‘object permanence’, which are conducive to the overall emotional developmental level. This study examined the ED as measured by the SAED in 289 adults (mean age: 36 years) with ID with and without additional ASD. A lower level in ED was observed in ASD/ID combined that corresponded to the ED of typically developing children aged 1.5–3 years versus an ED with a corresponding age of 3–7 years in ID individuals without ASD. Moreover, distinct strengths in ‘object permanence’, and weaknesses in ‘interaction’, ‘verbal communication’, ‘experience of self’, ‘affect differentiation’, ‘anxiety’, and ‘handling of material objects’ led to a characteristic pattern of ED in ASD. SAED domains with highest discriminative power between ID individuals with and without ASD (5/10) were used to predict ASD group membership. The classification using a selection of SAED domains revealed a sensitivity of 77.5% and a specificity of 76.4%. ASD risk increased 2.7-fold with every SAED level. The recognition of delayed and uneven pattern of ED contributes to our understanding of the emotion-related impairments in adults with ID and ASD these individuals. Assessment of intra-individual ED could add value to the standard diagnostic procedures in ID, a population at risk for underdiagnosed ASD.

Urinary tract infection among intellectual disability individuals "etiology and antibiotic resistance patterns" in rehabilitation centers of Mazandaran province, Northern Iran.

OBJECTIVE. Urinary tract infections (UTIs) are amongst the most common infections and account for large proportion of antibacterial drug consumption. The aim of this study was to determine the rate and the etiologic agents of UTIs in inhabitants of rehabilitation centers of Mazandaran province in northern Iran and to evaluate the antimicrobial susceptibility patterns of the uropathogens isolated. Clean catch midstream urine sample was collected from each of 314 participants (163 males, 151 females) residing in 12 rehabilitation centers of Ramsar, Nowshahr, Chalous, Amol, Sari and Behshahr. Urine specimens were cultured and bacterial isolates were identified by conventional methods. All urines fulfilling the criteria for the presence of significant bacteriuria (> or = 10(4) cfu/ml urine) were defined as positive. Antibiotic susceptibility testing was performed by Kirby-Bauer disc diffusion method. The rate of urinary tract infection was 30.9% with the highest rate in pediatrics (p < 0.0001).The prevalence of UTIs were shown to be higher in females than in males with the rate of 46.3% in young aged females (20-29 years), 60% in middle aged group (40-49 years) and 50% in elderly (> 50 years). Bacteria most frequently isolated from urine specimens was Escherichia coli (39.2%) with the highest rate of infection in females age group < 10 years (p < 0.001). Among the antibiotics tested against the isolated organisms for susceptibility test, ceftriaxone and gentamicin maintain good activity against the majority of gram negative bacteria that cause UTIs recovered from individuals with intellectual disability. Vancomycin was effective against Staphylococcus aureus. This survey shows that the prevalence of UTIs among inhabitants of institutions for mentally retarded persons in Mazandaran province of Iran is much higher than normal population.

Analysis of seasonal influenza vaccine uptake among children and adolescents with an intellectual disability

The aim of the present study was to describe the seasonal influenza vaccination rate and to examine its determinants for children and adolescents with intellectual disabilities (ID) living in the community. A cross-sectional survey was conducted to analyze the data on seasonal influenza vaccination rate among 1055 ID individuals between the ages of 12-18 years. The results found that 22.9% of the study participants used the vaccine during the past three years, and the vaccination rate among different age groups varied from 18.1 to 26.5%. There was no gender difference of seasonal influenza vaccination rate among age groups. Multilevel logistic regression analysis revealed that ID individuals with moderate (OR = 1.59, 95% CI = 1.08-2.34) or severe (OR = 2.31, 95% CI = 1.20-4.45) disability, with an illness (OR = 1.64, 95% CI = 1.02-2.63), who have general health exams (ever used, OR = 1.57, 95% CI = 1.03-2.40; regularly used, OR = 1.89, 95% CI = 1.05-3.41) were more likely to have seasonal influenza vaccination than their counterparts. The present study highlights that the substantial disparity in receipt of seasonal influenza vaccine in children and adolescents with ID reflects the effects of disability level, disease condition, and general health exam experience and suggests the need for greater attention to factors affecting ID individuals to improve their preventive health care.