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BACKGROUND: Home care for children with severe motor and intellectual disabilities (SMID) is challenging for parents because it is highly intensive and long-lasting. The pursuit of happiness is an essential goal for everyone. However, only a few studies have focused on the happiness of families with such children. OBJECTIVE: The study aimed to examine the subjective happiness of parents of children with SMID receiving home care and identify the factors associated with their happiness. METHODS: We conducted a cross-sectional online questionnaire-based survey of 23 parents of children with SMID and nurses with children without disabilities as controls at Tottori University Hospital, Yonago, Japan from July 1 to August 31, 2023. We set the subjective happiness scale (SHS) scores as the outcomes. We used the Mann-Whitney U test to compare the SHS scores between the two groups. Moreover, we extracted the clinical and demographic factors affecting the SHS scores of parents of children with SMID using univariate linear regression analysis. RESULTS: We obtained responses from 12 parents with SMID and 105 controls. The average SHS scores of parents with SMID and controls were 4.8 and 4.7, respectively, and both groups did not differ significantly. Univariate analysis showed that parental male sex and the presence of a tracheostomy were negatively associated with the SHS scores of parents. CONCLUSIONS: The SHS scores did not differ significantly between parents with SMID and controls. However, more attention seemed necessary for fathers and parents of children who have undergone tracheostomies. Given the exploratory nature of this study and its small sample size, larger-scale investigations are warranted. Additionally, qualitative research conducted after establishing trustful relationships could provide further insights.
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PURPOSE: We set out to characterize psychogenic non-epileptic seizures (PNES) in individuals with either intellectual disability (ID) or borderline intellectual function (BIF) in comparison to those with normal cognitive function. We aimed to identify differences between the two groups to improve clinical management protocols. METHODS: We conducted a retrospective, observational, single-center study. The medical records of individuals (aged ≥ 14 years) diagnosed with PNES, confirmed through video-electroencephalography (vEEG) at a specialized epilepsy center between January 2008 and December 2021, were reviewed. We restricted our study to individuals who underwent comprehensive neuropsychological evaluations. Furthermore, demographic, clinical, and neuropsychological data with potential prognostic indicators, alongside the reevaluation of vEEG recordings were studied. We compared two study groups based on intelligence quotient (IQ): individuals without ID (IQ≥85; n = 25) and those with either mild ID or BIF (n = 25). RESULTS: No statistically significant clinical differences were observed between the two groups. Individuals with mild ID/BIF didn't show a longer diagnostic delay, and the prescription of inappropriate antiseizure medications (ASMs) was comparable in both cohorts. Most individuals with mild ID/BIF were treated with behavioral psychotherapeutic approaches with similar outcomes in both subgroups. CONCLUSIONS: Individuals with mild ID/BIF and PNES don't differ in clinical management. Demographic and clinical data, as well as semiology, were comparable to those of individuals with normal cognitive function. Cognitive behavioral therapy (CBT) appears to be an effective treatment approach for individuals with and without mild ID/BIF. Further studies are needed to validate and ascertain their possible applicability in individuals with moderate/severe ID.
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Spinal cord injury (SCI) can cause neurogenic shock accompanied by bradycardia and hypotension. If no preceding traumatic episodes are apparent and the neurological examination is complicated by the patient's intellectual disability, SCI is likely to be overlooked. A 63-year-old man with intellectual disability presented to our hospital. The patient had fallen on the floor; however, no apparent head or neck trauma was observed. The patient returned home after confirming the absence of intracranial hematoma on computed tomography. However, the patient was re-admitted because of hypotension and bradycardia, and sick sinus syndrome was suspected. As the manifestations were motor weakness in the extremities and urinary retention, screening spinal magnetic resonance imaging revealed cervical cord injury and spondylosis. Cervical SCI related to a fall was suspected. Cervical decompression surgery and rehabilitation therapy contributed to the improved patient status. Herein, we report a case of intellectual disability in which SCI was initially overlooked. No severe preceding traumatic episode or intellectual disability of the patient could have led to overlooking SCI in our case. Clinicians should be cautious about this rare condition.
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This study delves into the diagnostic yield of whole-exome sequencing (WES) in pediatric patients presenting with developmental delay/intellectual disability (DD/ID), while also exploring the utility of Reverse Phenotyping (RP) in refining diagnoses. A cohort of 100 pediatric patients underwent WES, yielding a diagnosis in 66% of cases. Notably, RP played a significant role in cases with negative prior genetic testing, underscoring its significance in complex diagnostic scenarios. The study revealed a spectrum of genetic conditions contributing to DD/ID, illustrating the heterogeneity of etiological factors. Despite challenges, WES demonstrated effectiveness, particularly in cases with metabolic abnormalities. Reverse phenotyping was indicated in half of the patients with positive WES findings. Neural network models exhibited moderate-to-exceptional predictive abilities for aiding in patient selection for WES and RP. These findings emphasize the importance of employing comprehensive genetic approaches and RP in unraveling the genetic underpinnings of DD/ID, thereby facilitating personalized management and genetic counseling for affected individuals and families. This research contributes insights into the genetic landscape of DD/ID, enhancing our understanding and guiding clinical practice in this particular field of clinical genetics.
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Deficiências do Desenvolvimento , Sequenciamento do Exoma , Deficiência Intelectual , Fenótipo , Humanos , Sequenciamento do Exoma/métodos , Deficiências do Desenvolvimento/genética , Criança , Masculino , Deficiência Intelectual/genética , Deficiência Intelectual/patologia , Feminino , Pré-Escolar , Lactente , Adolescente , Testes Genéticos/métodosRESUMO
BACKGROUND: The study aimed to translate and validate the Prolonged Grief Disorder (PG-13) scale from English into Urdu language. This involved examining its psychometric properties, evaluating its factor structure and assessing both convergent and discriminant validity. The study was conducted within the cultural context of Pakistan and focused on the assessment of manifestations of grief, including symptoms of prolonged grief, in adolescents with mild-to-moderate intellectual disability (ID). The PG-13 scale was selected for this study due to its demonstrated accuracy in measuring prolonged grieving symptoms in bereaved population. METHOD: A total of 140 adolescents, aged 10-19 years according to the World Health Organization (WHO) 2018 criteria, were selected from 14 cities in Pakistan. These participants had lost loved ones within the time span of the last 4 years. The WHO (2018) guidelines for translation, adaptation, and validation were followed. RESULTS: The findings suggest that the translated and validated PG-13 scale has adequate psychometric properties, with Cronbach alpha coefficient of .97. Confirmatory factor analysis supports a single-factor structure for the scale, with factor loadings ranging from .80 to .95. CONCLUSION: The PG-13 Urdu version is a reliable and validated scale available for assessing grieving symptoms in the Pakistani context.
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Pesar , Deficiência Intelectual , Psicometria , Humanos , Adolescente , Masculino , Paquistão , Feminino , Criança , Psicometria/normas , Psicometria/instrumentação , Adulto Jovem , Reprodutibilidade dos Testes , Adulto , Escalas de Graduação Psiquiátrica/normasRESUMO
To assess whether genetic test results identifying the cause of a child's autism, when accompanied by other neurodevelopmental disorders (NDD), including intellectual disability, alter how parents perceive and treat their child. 28 parents of 22 individuals with autism (mean age: 15 years), usually with other NDDs, were interviewed after receiving genetic diagnoses indicating a de novo mutation through the Simons Foundation Powering Autism Research for Knowledge study. Diagnosis of a de novo genetic variant can alter parental perceptions of offspring with autism and other NDDs. Parents often blamed their child less, saw their child as less in control of symptoms, and developed more patience, framing expectations accordingly. Parents had mixed feelings about receiving genetic diagnoses, with sadness sometimes accompanying reframed expectations. Genetic diagnoses could change views of the child among extended family members, teachers, social service agencies, insurers, and broader communities and society. Genetic testing might also reduce delays in diagnoses of autism among African American, Latino and other children. These data, the first to examine several critical aspects of how parents and others view children with autism and other NDDs after receiving genetic diagnoses, highlight vital needs for education of multiple stakeholders (including geneticists, other physicians, genetic counselors, parents, individuals with autism, social service agencies, insurers, policymakers, and the broader public), research (to include perspectives of extended family members, insurers, social service agencies and teachers) and practice (to increase recognition and awareness of the potential benefits and effects of genetic testing for such children).
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Primrose syndrome is a rare autosomal dominant disorder that is characterized by recognizable facial phenotype, sensorineural hearing loss, hypotonia, and developmental delay. All reported probands show de novo ZBTB20 pathogenic variant. Since its discovery in 1982, Primrose syndrome has remained an underdiagnosed condition. Awareness of presentation and prompt diagnostic workup are crucial for early identification and proper management. In this case report, we discuss a case of Primrose syndrome diagnosed in an infant born at Wellspan Hospital in York, PA. The patient exhibited classic phenotypic features, including a high hairline, high-arched palate, and brachycephaly at birth, as well as an absent corpus callosum observed on postnatal MRI and genotypic findings of a pathogenic variant in ZBTB20.
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The construct of support needs has become a key aspect for the diagnostics, classification, and interventional management of autism spectrum disorders (ASDs). However, instruments specifically designed to assess support needs in this population are not available. Currently, the Supports Intensity Scale for Children (SIS-C), which could be administered to assess students with any type of intellectual disability (ID), is the only valid tool able to assess support needs in Spain. Our aim was to verify whether the SIS-C is useful for assessing the support needs of students with ASD, regardless of whether or not they present ID. The participants were subdivided into two groups. One group included students with ASD and ID (n = 248), and the other comprised participants with ASD without an ID (n = 44). The results of the two groups were compared with those reported in the original validation sample of the SIS-C, which involved participants with ID without ASD (n = 566). The results showed that this scale could be useful for assessing support needs in the three subgroups, but it appeared that different standardized norms based on the characteristics of each specific population would be appropriate.
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Global developmental delay (GDD) and intellectual disability (ID) are common reasons for referral to neurodevelopmental assessment. The etiology of GDD and ID can be genetic, acquired, or multifactorial. We report a case of a 10-year-old boy with ID and GDD who was diagnosed with Cabezas syndrome, a rare genetic disorder caused by a deletion of the CUL4B gene. Despite normal results from previous testing, exome sequencing with copy number variation analysis led to the identification of the deletion. Early diagnosis of GDD and ID is crucial for effective patient management, including planning interventions and providing support, therapy, and genetic counseling for families.
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This case report highlights an episode of neuroleptic malignant syndrome (NMS) in a forensic psychiatry inpatient unit and how the coronavirus disease (COVID) pandemic, as well as, an atypical presentation of NMS delayed diagnosis and treatment of a patient, which could have been fatal. NMS and atypical NMS manifest typically after the use of anti-psychotics during the first two weeks of initiation of treatment. COVID can mimic many of the initial symptoms of NMS such as changes in mental status, fever, and, at times, dysautonomia. This case will try and highlight why this crossover of symptoms and the forensic environment made diagnosis and treatment in this particular case more difficult.
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Abnormal gestational weight gain (GWG) has been increasing globally, up to 47% of all pregnancies. Multiple studies have focused on the association between GWG and adverse neurodevelopmental outcomes in the offspring, however with inconsistent results. We performed a systematic review and meta-analysis to evaluate associations between excessive or insufficient GWG and offspring's neurodevelopmental outcomes. Meta-analysis of these 23 studies using a random-effects model revealed associations between excessive GWG and neurodevelopmental disorders (ASD & ID & ADHD together: OR=1.12 [95% CI 1.06-1.19]), ASD (OR=1.18 [95% CI 1.08-1.29]), ADHD (OR=1.08 [95% CI 1.02-1.14]), ASD with ID (OR=1.15 [95% CI 1.01-1.32]), and ASD without ID (OR=1.12 [95% CI 1.06-1.19]). Insufficient GWG was associated with higher risk for ID (OR=1.14 [95% CI 1.03-1.26]). These results emphasize the significant impact, though of small effect size, of GWG across multiple neurodevelopmental disorders. It is important to note that these results do not establish causality. Other factors such as genetic factors, gene-environment interactions may confound the relationship between GWG and neurodevelopmental outcomes. To better understand the role of GWG in neurodevelopmental disorders, future studies should consider using genetically sensitive designs that can account for these potential confounders.
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Ganho de Peso na Gestação , Transtornos do Neurodesenvolvimento , Gravidez , Feminino , Humanos , Aumento de Peso , Transtornos do Neurodesenvolvimento/epidemiologia , Transtornos do Neurodesenvolvimento/etiologia , Índice de Massa CorporalRESUMO
Neurodevelopmental disorders in children have an important impact on the quality of life in the whole life cycle. Severe neurodevelopmental disorders will become a serious social and family burden and an important social and economic problem. The early and middle childhood is the critical period of children's neurodevelopment. Early diagnosis of neurological disorders plays an important role in guiding children's neurological development. Existing monitoring tools lack prenatal and even early assessment of children's neurodevelopment, so reliable biomarkers are conducive to personalized care at an earlier stage. In this review, we will discuss different methods of neurodevelopmental monitoring at different times and the role and evaluation of liquid biopsy in neurodevelopmental monitoring.
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Biópsia Líquida , Transtornos do Neurodesenvolvimento , Transtornos do Neurodesenvolvimento/diagnóstico , Transtornos do Neurodesenvolvimento/patologia , Biópsia Líquida/métodos , Humanos , Teste Pré-Natal não Invasivo/métodos , Ácidos Nucleicos Livres/análise , Encéfalo/crescimento & desenvolvimento , Encéfalo/patologiaRESUMO
Fragile X syndrome (FXS) is a hereditary disease that predominantly leads to intellectual disability (ID) in boys. It is the second prominent cause of ID, which manifests as a result of the atypical development of the cytosine-guanine-guanine (CGG) region. This irregular extension of the CGG region gives rise to methylation and silencing of the fragile X mental retardation 1 (FMR1) gene, causing a loss of the fragile X mental retardation 1 protein (FMRP). This reduction or loss of FMRP is the main cause of ID. It has a multisystemic involvement showing neuropsychiatric features such as ID, speech and language delay, autism spectrum disorder, sensory hyperarousal, social anxiety, abnormal eye contact, shyness, and aggressive behaviour. It is also known to cause musculoskeletal symptoms, ocular symptoms, cardiac abnormalities, and gastrointestinal symptoms. The management is challenging, and there is no known cure for the disease; hence an early diagnosis of the condition is needed through prenatal screening offered to couples with familial history of ID before conception. The management rests on non-pharmacological modalities, including applied behaviour analysis, physical therapy, occupational therapy, speech-language therapy, and pharmacologic management through symptomatic treatment of comorbid behaviours and psychiatric problems and some forms of targeted therapy.
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BACKGROUND: Previous studies have suggested that gestational weight gain (GWG) outside an optimal range increases the risks of neurodevelopmental disorders (NDDs) in offspring including autism spectrum disorder (ASD), intellectual disability (ID), and attention deficit/hyperactivity disorder (ADHD). The sequential development of the fetal brain suggests that its vulnerability may vary depending on the timing of exposure. Therefore, we aimed to investigate the associations of not only gestational age-standardized total GWG (GWG z-scores) but also the rate of GWG (RGWG) in the second and third trimesters with risks of NDDs in offspring. METHODS: In this population-based cohort study, we used maternal weight data from antenatal care records collected for 57,822 children born to 53,516 mothers between 2007 and 2010 in the Stockholm Youth Cohort. Children were followed from 2 years of age to December 31, 2016. GWG z-scores and RGWG (kg/week) in the second and third trimesters were considered as continuous variables in cox regression models, clustered on maternal identification numbers. Nonlinear relationships were accommodated using restricted cubic splines with 3 knots. RGWG were also categorized according to the 2009 US Institute of Medicine (IOM) guidelines for optimal GWG. According to the IOM guidelines, the optimal rate of GWG for the second and third trimesters for underweight, normal weight, overweight, and obese categories were 0.44-0.58, 0.35-0.50, 0.23-0.33, and 0.17-0.27 kg/week, respectively. RESULTS: During a mean follow-up of 5.4 years (until children were on average 7.4 years old), 2205 (3.8%) children were diagnosed with NDDs, of which 1119 (1.9%) received a diagnosis of ASD, 1353 (2.3%) ADHD, and 270 (0.5%) ID. We observed a J-shaped association between total GWG z-score and offspring risk of NDDs, with higher total GWG (GWG z-score = 2) associated with 19% increased risk of any NDD (95% CI = 3-37%) and lower total GWG (GWG z-score = - 2) associated with 12% increased risk of any NDDs (95% CI = 2-23%), compared to the reference (GWG z-score = 0). In the second trimester, lower RGWG (0.25 kg/week) was associated with a 9% increased risk of any NDD diagnosis (95% CI = 4-15%) compared to the median of 0.57 kg/week, with no apparent relationship between higher RGWG and risk of NDDs. In the third trimester, there was no apparent association between lower RGWG and risk of NDDs, though higher RGWG (1 kg/week) was associated with a 28% increased risk of NDD diagnosis (95% CI = 16-40%), compared to the median (0.51 kg/week). When considering categorized RGWG, we found that slow weight gain in the second trimester followed by rapid weight gain in the third trimester most significantly increased the risk of ADHD (HRadjusted = 1.55, 1.13-2.13) and ID (HRadjusted = 2.53, 1.15-5.55) in offspring. The main limitations of our study are the relatively few years for which detailed GWG data were available and the relatively short follow-up for the outcomes, limiting power to detect associations and misclassifying children who receive an NDD diagnosis later in childhood. CONCLUSIONS: The relationship between maternal weight gain and children's risk of NDDs varied according to timing in pregnancy, with the greatest risks associated with slow weight gain in the second trimester and rapid weight gain in the third trimester.
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Transtorno do Espectro Autista , Ganho de Peso na Gestação , Criança , Adolescente , Gravidez , Feminino , Humanos , Estudos de Coortes , Transtorno do Espectro Autista/epidemiologia , Índice de Massa Corporal , Aumento de Peso , PartoRESUMO
BACKGROUND: NEUROD2, encoding the neurogenic differentiation factor 2, is essential for neurodevelopment. To date, heterozygous missense variants in this gene have been identified in eight patients (from six unrelated families) with epileptic encephalopathy and developmental delay. CASE REPORT: We describe a child with initial clinical suspicion of Rett/Rett-like syndrome, in whom exome sequencing detected a novel de novo variant (c.388G > A, p.Glu130Lys) in NEUROD2. Interestingly, a missense change affecting the same codon, c.388G > C (p.Glu130Gln), was previously identified in other two patients. CONCLUSIONS: Our results suggest that Glu130 might represent a potential mutational hotspot of NEUROD2. Furthermore, the clinical findings (especially the absence of clinically overt seizures) strengthen the NEUROD2-phenotypic spectrum, implying that developmental delay may also manifest isolatedly. We suggest inclusion of NEUROD2-associated developmental and epileptic encephalopathies (DEEs) in the differential diagnosis of atypical Rett syndrome as well as gene panels related to autism spectrum disorder.
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Transtorno do Espectro Autista , Epilepsia Generalizada , Deficiência Intelectual , Neuropeptídeos , Síndrome de Rett , Humanos , Transtorno do Espectro Autista/genética , Síndrome de Rett/diagnóstico , Síndrome de Rett/genética , Mutação/genética , Fenótipo , Códon , Epilepsia Generalizada/genética , Deficiência Intelectual/genética , Neuropeptídeos/genética , Fatores de Transcrição Hélice-Alça-Hélice Básicos/genéticaRESUMO
Introduction The living situation of individuals with intellectual disabilities (ID) has evolved throughout the years and ranges from living at home with family caregivers to group homes to independent living arrangements. Living situations can affect access to care and thus healthcare utilization seen by healthcare encounters for individuals with ID. Methods The researchers conducted a chart review of 112 patients to assess demographics, living situations, and healthcare encounters between 2019 and 2021. Living situation categories included independent, biological family, group home, home with other support, and others. Statistical analyses were conducted using R version 4.2.1 (The R Foundation for Statistical Computing, Vienna, Austria). Univariable analyses consisted of the Shapiro-Wilk test of normality, Kruskal-Wallis rank sum test, and pairwise Wilcoxon rank sum test with multiple comparisons correction using the Bonferroni method. Statistical testing for multivariable analysis included the Kruskal-Wallis rank sum test, Spearman's rank correlation, and the negative binomial model. Results Results showed a statistically significant difference in median total encounter value between independently living individuals with ID compared to all other living situations, Χ2 = 4.230, df = 1, p-value = 0.040. Additionally, there is a significant association between medication count and total encounter count, rho = 0.341, S = 154322, p-value < 0.001. Conclusion The study showed that individuals with ID who live independently have fewer healthcare encounters compared to all other living situations. This may be due to various factors such as increased autonomy and free choice, increased barriers to healthcare, or better overall health requiring less medical attention in independently living individuals with ID.
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Schuurs-Hoeijmakers syndrome, an autosomal dominant disorder associated with mutations in the PACS1 gene, was initially identified in two unrelated children of European descent from a cohort of individuals with intellectual disabilities. This gene alteration significantly reduced cranial cartilaginous structures, inducing craniofacial alterations predominantly in a dominant-negative fashion. In this paper, we report a novel variant of PACS1 associated with Schuurs-Hoeijmakers syndrome: a boy aged two years and nine months of indigenous descent presenting with motor stereotypies, atypical sensory searches, language delay, and low socio-interactional reciprocity. Whole exome sequencing confirmed the presence of a heterozygous missense mutation c.943C>T p. (Arg315Trp) in the PACS1 gene. The phenotypic profile identified was similar to the other cases of Schuurs-Hoeijmakers syndrome described in the literature. This report highlights the importance of considering the possibility of PACS1 gene alterations and a diagnosis of Schuurs-Hoeijmakers syndrome in patients presenting craniofacial alterations associated with autistic features, psychomotor and language development delay.
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Background: A national birth cohort study was used to investigate whether high-risk family factors at 1.5-year-olds can increase the risk of attention-deficit/hyperactivity disorder (ADHD) diagnosis when children reach 5.5 years. The pathway relationship of high-risk family factors, children's developmental conditions, risk of autism spectrum disorder (ASD), and diagnosis of intellectual disability (ID), learning disability (LD), and ASD was also investigated. Methods: The 1.5-, 3- and 5.5-year-old Taiwan Birth Cohort Study (TBCS) dataset was used (N = 19,185). The high-risk familial factor was measured using five questions assessing whether parents are currently unmarried, unemployed, do not have any social insurance, perceive a "very heavy" economic childcare burden, and at least one of the parents has a disability certification. Developmental conditions were assessed using the Taiwan Birth Cohort Study-Developmental Instrument (TBCS-DI), and ASD risk was measured using the Modified Checklist of Autism in Toddlers. Data on ADHD, ID, LD, and ASD diagnoses were collected at age 5.5. The odds ratio model investigated whether children from families with high-risk factors at 1.5-years were at increased risk of ADHD, ID, LD, or ASD diagnosis at 5.5-years, compared to those children from families without such risks. Structural equation modeling investigated the logistic regression pathway relationship of high-risk familial characteristics, children's developmental conditions, autism screening, and diagnosis. Results: In the national birth cohort dataset of 19,185 children, 2070 (10.8%) met at least one of the high-risk familial factors. Children who met one high-risk familial factor had a 1.21-fold increased risk for ADHD diagnosis, 1.36-fold increased risk for LD diagnosis, and 1.80-fold increased risk for ASD diagnosis, compared to children from families without risks. High-risk familial factors directly increased the risk of ADHD and ID diagnosis, and indirectly increased the risk of ADHD, ID, LD, and ASD diagnosis through the mediating factor of children's development. Conclusions: Children who met more high-risk familial characteristics were at higher risk of ADHD, ID, LD, and ASD diagnosis. Development at three years was predictive of diagnosis at 5.5 years. Thus, developmental screening at age three is vital for interventions. Preventive, family-focused, and/or child-rearing services for at-risk families are important for improving outcomes for these children and their families.
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Individuals with intellectual disability who suffer from comorbid mental health problems are likely to experience difficulties in socialising. Deficits in social skills are also associated with challenging behaviours and self-injury. This paper presents global evidence from a systematic review of literature on such issues as 'interventions'; 'social skills development', and 'individuals with intellectual disability'. A thorough search of various bibliographic databases identified 1 124 academic papers. Ten papers met the inclusion criteria for in-depth analysis concerning the use of interventions to develop social skills among individuals with intellectual disability. The study revealed that the social skills of individuals with intellectual disability had been fostered using different strategies, such as classroom-based intervention, emotional intelligence training, use of a peer network intervention, computer games of emotion regulation, and puppet play therapy. Furthermore, the findings suggest that various aspects like communication, bridging the gap in social skills deficits, emotional recognition and regulation, and adaptive behaviour were fostered using the identified intervention strategy. This review revealed that social skills interventions appeared modestly effective but may not be generalisable to school settings or self-reported social behaviour for individuals with intellectual disability. It is also necessary to increase the sample size in future studies to draw generalisable conclusions.