Journal of Intellectual Disability Research最新文献

Background: Persons with severe motor and intellectual disabilities (SMID) have difficulty using general nutritional assessments in the elderly and other populations because of their physical characteristics. The purpose of this study was to investigate the clinical utility of body composition, which has been suggested to be related to biochemical tests in persons with SMID.

Methods: We calculated cutoff values of body composition predicting malnutrition and compared the usage of peripheral parenteral nutrition for the two groups divided by each body composition cutoff value. We also compared body composition at the baseline between nonsurvivors and survivors.

Results: Only group comparisons based on skeletal muscle ratio and extracellular water to total body water (ECW/TBW) cutoffs showed significant differences in the usage of peripheral parenteral nutrition. Nonsurvivors had significantly higher ECW/TBW than survivors at the baseline.

Conclusions: In persons with SMID, skeletal muscle ratio and ECW/TBW measured using multifrequency bioelectrical impedance were associated with biochemical indices and ill health. Furthermore, ECW/TBW was also associated with mortality, suggesting that ECW/TBW is a significant measure for nutritional assessment in clinical practice.

Background: The dynamic, reciprocal, and bidirectional relationships in encounters between infants and their caregivers are called early interactions. Evidence shows that these interactions influence cognitive, emotional, and social development beyond the early years. While some studies have examined these interactions in dyads with infants with Down syndrome, they have mostly focused on parents in small samples. This study explores these interactions by considering parental, infant, and interaction variables.

Methods: A total of 128 dyads participated, with 64 infants with Down syndrome and 64 typically developing infants, matched one-by-one by developmental age. During home visits, socio-demographic and developmental information was collected, development and dyadic interactions were assessed using standardised instruments. Descriptive analyses, MANOVAs, and ANOVAs were conducted comparing the group of dyads that included infants and toddler with Down syndrome and those with typical development. Infant and toddler gender showed significant differences and was included as a relevant factor in the analyses.

Results: Key findings include lower scores in parental sensitivity and non-directiveness in dyads with children with Down syndrome. Children with Down syndrome also showed lower scores in attention to the caregiver. Interactions with children with Down syndrome exhibited less mutuality and engagement. Significant gender-based interactions were found, showing that parents are more sensitive and less directive with girls with Down syndrome, who also show greater expression of negative affect and better attention to the caregiver.

Conclusions: This study suggests different qualities in early interactions when a child with Down syndrome is involved. These interactions are characterised by lower sensitivity and greater directiveness, possibly in response to the lower attention towards the caregiver observed in these children. This results in less mutual interaction. The findings' alignment with previous research and implications for clinical work are discussed. Given the observed effect of the child's gender, future research should further explore this aspect.

Background: Diagnosis of intellectual disability (ID) may overshadow, or co-occur with, hearing impairment, but screening is frequently inaccessible due to various factors that prevent successful test execution. There is a pressing need for easily, locally administered hearing tests. This study aimed to assess the efficacy of the digit-in-noise (DIN) test, as well as three variations of it, as a hearing screening for individuals with mild to moderate ID. Additionally, we explored correlations between participant characteristics and cognitive-linguistic abilities, with DIN test performance.

Method: Forty participants with ID aged 21-40 were recruited from two supported employment centres, 31 of whom met full inclusion criteria. Controls were 20 typically developed (TD) participants, aged 21-40. The original DIN test (DIN(3)) was administered, and those unable to recall the three digits were administered a version with two digits (DIN(2)). Participants unable to successfully complete DIN(3) or DIN(2) were administered versions with added visual and verbal performance feedback.

Results: A significant difference in speech receptive threshold in noise (SRTn) between DIN(2) and DIN(3) was only present for the ID group. A moderate negative relationship between DIN(2) SRTn and vocabulary and a positive relationship with age was found for the ID group; no correlation was found with digit span or matrices. The DIN(2) SRTn was correlated with the average hearing level of pure tones measured by audiometry.

Conclusions: Our findings highlight the DIN(2) as the most effective version, as its signal-to-noise ratio (SRTn) threshold was closest to the typically developed (TD) control group. This study is the first step towards developing a hearing screening test for individuals with ID who are at elevated risk of impairment and who have insufficient evaluation access. Our findings suggest that adults with mild to moderate ID can sufficiently perform the adapted DIN(2) as a hearing screening test.

Background: The 22q11.2 deletion syndrome (22q11.2DS) entails intellectual disabilities and higher risk of psychotic disorders. Neurocognitive deficits predict real-life functioning of schizophrenic patients. We investigated real-life functioning in 22q11.2DS, aiming at defining how neurocognitive profile and psychopathological variables impact on psychotic patients' social functioning.

Methods: We recruited 63 patients with schizophrenia (SCZ, N = 63), 44 with 22q11.2DS (DEL, N = 44) and 19 with 22q11.2DS and psychosis (DEL-SCZ, N = 19), all matched for age, sex and neurocognitive profile; we administered the Positive and Negative Syndrome Scale (PANSS), the Brief Negative Symptom Scale (BNSS), the Specific Levels of Functioning (SLoF) scale and the Measurement and Treatment Research to Improve Cognition in Schizophrenia Consensus Cognitive Battery (MCCB). We implemented descriptive analyses, MANCOVA and linear regression statistics.

Results: The DEL-SCZ and the SCZ groups showed similar levels in Interpersonal Relationships (p = 0.093) and Social Acceptability subscales (p = 0.283). The DEL group scored higher on the Interpersonal Relationships subscale compared with the SCZ group (p = 0.001). The groups scored similarly on the other SLoF subscales. Both BNSS total score (beta = -0.343; p = 0.004) and BNSS asociality (beta = -0.487; p = 0.038) significantly predicted the Interpersonal Relationships variable in the groups with psychosis (SCZ and DEL-SCZ).

Discussion and conclusions: Individuals with 22q11.2DS display a similar real-life functioning to patients with chronic schizophrenia. Social functioning impairments are typical of psychosis regardless of the genetic condition and highly predicted by negative symptoms like asociality. The 22q11.2DS represents a reliable biological model to study vulnerability to psychosis and its consequences on patients' real-life and social functioning.

Objective: Children with intellectual disability (ID) usually exhibit neuroendocrine functioning impairment, such as alterations in the hypothalamic-pituitary-adrenal (HPA) neuroendocrine axis, which can result in glucocorticoid cortisol release alterations. Indeed, many studies showed a positive association between ID and cortisol concentration. However, evidence is lacking on the relationship between child neurodevelopment and cortisol levels during adolescence in population-based studies. We aimed to test the association between ID and hair cortisol concentration (HCC) during adolescence in a prospective population-based cohort.

Methods: Data from 1770 individuals in the 2004 Pelotas Birth Cohort were used. ID was diagnosed at age 6 through clinical examination. Hair cortisol was measured at age 15. Association was assessed using linear regression models adjusted for sex, socio-economic factors, hair-related variables and corticosteroid use.

Results: Higher HCC were observed in individuals with ID (β: 1.120; 95% CI: 1.012, 1.241) in the analysis adjusted for sex, hair-related variables and corticosteroid use. Compared to the other aetiological groups, this was more evident in idiopathic ID. But this did not remain significant when demographics/socio-economic variables were controlled for.

Conclusion: Children with ID, particularly those with idiopathic ID, might exhibit dysfunction in the HPA axis or experience heightened stress levels during adolescence.

Background: Urinary and bowel incontinence are more common in adults with intellectual disability (ID), compared to the general population. Little is known about their incontinence experiences and toileting issues. The aim was to learn about their experiences and toileting issues.

Method: Incontinence and toileting issues assessment was conducted with a community-based sample of 22 adults with ID and urinary incontinence, with or without bowel incontinence. Assessment included the IPSS, ICIQ-UI, and POTI checklists; bladder scans; and urine sample screening for presence of a urinary tract infection.

Results: The majority (19 adults, 86%) developed urinary incontinence during adulthood. Seven adults (32%) also experienced bowel incontinence, and constipation was the most commonly reported health condition (13 adults, 59%), other than urinary incontinence. Fifty per cent (11 adults) had been treated for a urinary tract infection within the previous 12 months.

Conclusion: There is an urgent need to develop accessible and reliable incontinence assessment materials with and for adults with ID and their supporters. These assessments should pay close attention to health conditions that can cause incontinence in this group and factors associated with incontinence which are more commonly experienced by adults with ID. These factors are potentially modifiable.

Background: The present observational cross-sectional study aimed at investigating the prevalence of feeding and eating disorders (FEEDs) in adults with intellectual disability (ID)/intellectual developmental disorder (IDD) with or without autism spectrum disorder (ASD) and specific problem behaviours (PBs).

Methods: Two hundred six adults with ID/IDD consecutively attending residential and rehabilitative facilities, 59.2% of which had co-occurring ASD, were assessed for presence of FEEDs by a structured interview specifically developed for the study and Diagnostic Manual - Intellectual Disability criteria.

Results: The 4.3% of the sample fully met the diagnostic criteria for anorexia nervosa, 6.7% for bulimia nervosa (BN) and 22.8% for binge eating disorder (BED). Furthermore, at least one observable symptom of these disorders was found in higher percentages of the sample. A higher prevalence of FEEDs was found in ID/IDD plus ASD than in ID/IDD alone. PBs were also significantly higher in participants with co-occurring ASD and had a positive correlation with the number of FEED symptoms, especially for BN and BED.

Conclusions: The study enriches previous literature and considers novel aspects such as the behavioural/observable presentation of symptoms as well as the association with ASD and PBs. These issues deserve a specific consideration within standard psychiatric assessment and future research, especially in persons with major communication and/or cognitive difficulties.

Background: Mitochondrial DNA (mtDNA) rearrangements are recognised factors in mitochondrial disorders and ageing, but their involvement in neurodevelopmental disorders, particularly intellectual disability (ID) and autism spectrum disorder (ASD), remains poorly understood. Previous studies have reported mitochondrial dysfunction in individuals with both ID and ASD. The aim of this study was to investigate the prevalence of large-scale mtDNA rearrangements in ID and ID with comorbid ASD (ID-ASD).

Method: We used mtDNA-targeted next-generation sequencing and the MitoSAlt high-throughput computational pipeline in peripheral blood samples from 76 patients with ID (mean age 52.5 years, 37% female), 59 patients with ID-ASD (mean age 41.3 years, 46% female) and 32 healthy controls (mean age 42.4 years, 47% female) from Catalonia.

Results: The study revealed a high frequency of mtDNA rearrangements in patients with ID, with 10/76 (13.2%) affected individuals. However, the prevalence was significantly lower in patients with ID-ASD 1/59 (1.7%) and in HC 1/32 (3.1%). Among the mtDNA rearrangements, six were identified as deletions (median size 6937 bp and median heteroplasmy level 2.3%) and six as duplications (median size 10 455 bp and median heteroplasmy level 1.9%). One of the duplications, MT-ATP6 m.8765-8793dup (29 bp), was present in four individuals with ID with a median heteroplasmy level of 3.9%.

Conclusions: Our results show that mtDNA rearrangements are frequent in patients with ID, but not in those with ID-ASD, when compared to HC. Additionally, MitoSAlt has demonstrated high sensitivity and accuracy in detecting mtDNA rearrangements, even at very low heteroplasmy levels in blood samples. While the high frequency of mtDNA rearrangements in ID is noteworthy, the role of these rearrangements is currently unclear and needs to be confirmed with further data, particularly in post-mitotic tissues and through age-matched control studies.

Background: This study aimed to evaluate the validity and reliability of the adult self-report and proxy version of the Trauma Screener-Intellectual Disability (TS-ID) in adults with mild intellectual disability or borderline intellectual functioning (MID-BIF). An optimal cut-off value was determined for the ratio of specificity to sensitivity for predicting the diagnosis of post-traumatic stress disorder (PTSD).

Methods: The TS-ID was adapted from a Dutch Child and Adolescent Trauma Screener, for use with adults with MID-BIF. Outcomes based on the TS-ID were compared with the presence of PTSD, as classified using the Diagnostic Interview Trauma and Stressors-Intellectual Disability (Mevissen et al. 2018). The TS-ID adult version was administered to 97 participants with MID-BIF who lived in supported housing, whereas the TS-ID proxy version was administered to 92 family members or professional caregivers.

Results: The TS-ID adult version showed high internal consistency (Cronbach's α = .94) and excellent validity (AUC = .94) for distinguishing PTSD in adults with MID-BIF. Optimal specificity and sensitivity was found at a cut-off score of 18. Although the TS-ID proxy version demonstrated excellent internal consistency (Cronbach's α = .93), it showed no validity in statistically distinguishing PTSD in adults with MID-BIF.

Conclusions: The TS-ID showed favourable psychometric qualities as a screening instrument of PTSD in the case for people with MID-BIF.