The importance of pacing in basketball players with intellectual impairment: Input for evidence-based classification.

Pacing places a high demand on intellectual functioning and has been found useful for classification of athletes with intellectual impairments (II). This may also be true in open-loop sports like basketball. The current study aimed to investigate the pacing behaviour of basketball players with and without II. Using time-motion analysis, the activity of elite basketball players with II (n = 37) and amateur players without II (n = 34) was coded into four movement categories over eight periods of each game: standing, walking, running and jumping. Following two-way ANOVA, an effect of group showed differences between groups in duration and frequency of the movement categories within each period of the games. Additionally, an effect of time suggested that players in both groups paced their performances. However, no interaction was found, indicating that pacing may not be different between groups. In conclusion, the results suggest that due to the dynamic nature of basketball, the included players paced more intuitively by responding to environmental cues and using less deliberate planning. The players with II demonstrated slower games, which may be due to an impaired ability to make quick moment-to-moment deliberate decisions. These skills should be further studied in the context of evidence-based classification.

Developing additional competition classes for athletes with intellectual impairments: Conceptual approach and efficacy of an ICF derived measure.

The purpose of para sport classification systems is to minimize the impact of impairment on competition outcome. Currently, athletes with intellectual impairment (II) compete in one class, regardless of the extent of activity limitation resulting from their impairment. Consequently, athletes with II that cause relatively minor difficulty in sport have a competitive advantage over athletes who have intellectual impairments that cause more significant advantage. This research investigated the efficacy of a measure of health-related functional impairment, derived from the World Health Organization International Classification of Functioning, Disability, and Health (ICF), as a tool to classify athletes with intellectual impairments (II) into groups with impairments that cause similar activity limitation. The first study used a Delphi technique to identify the most relevant codes within the ICF from which a measure of impairment presence and severity was derived. The second study investigated whether the measure could discriminate between groups of II athletes organized into three competition groups, and whether these groups could be predicted by ICF score. The ICF-based questionnaire shows promise as a conceptual approach and as a tool in this context, but this is a preliminary step before establishing a sport-specific approach to classification.

Challenges in molecular diagnosis of X-linked Intellectual disability.

BACKGROUND: Intellectual disability (ID) affects 1-3% of the Western population and is heterogeneous in origin. Mutations in X-linked genes represent 5-10% of ID in males. Fragile X syndrome, due to the silencing of the FMR1 gene, is the most common form of ID, with a prevalence of around 1:5000 males. Females are usually non- or mildly affected carriers, and in a few rare cases, the only gender affected. Array comparative genome hybridization (aCGH) and next-generation sequencing (NGS) have dramatically changed the nature of human genome analysis leading to the identification of new X-linked intellectual disability syndromes and disease-causing genes. SOURCES OF DATA: Original papers, reviews, guidelines and experiences of the diagnostic laboratories. AREAS OF AGREEMENT: Family history and clinical examination still are essential to choose the appropriate diagnostic tests, including, a disease-specific genetic test, aCGH or FMR1 molecular analysis. If negative, NGS approaches like well-defined gene panels, whole exome, or even whole genome sequencing, are increasingly being used, improving diagnostics and leading to the identification of novel disease mechanisms. AREAS OF CONTROVERSY: The main challenge in the era of NGS is filtering and interpretation of the data generated by the analysis of a single individual. In X-linked cases, assessing pathogenicity is particularly challenging, even more when the variant is found to be inherited from a healthy carrier mother or when a heterozygous X-linked mutation is found in an impaired female. GROWING POINTS: At present, variant interpretation remains a challenging task, especially in X-linked disorders. We review the main difficulties and propose a comprehensive overview that might aid in variant interpretation. Establishing a genetic diagnosis facilitates counseling and allows better delineation of clinical phenotypes. AREAS TIMELY FOR DEVELOPING RESEARCH: To improve variant interpretation, there is need to refine in silico predictions with specific criteria for each gene, and to develop cost-effective functional tools, which can be easily transferred to diagnostics.

Classification of intellectual disability according to domains of adaptive functioning and between-domains discrepancy in adults with epilepsy.

BACKGROUND: In the Diagnostic and Statistical Manual of Mental Disorders-Fifth edition (DSM-5), the diagnostic criteria of intellectual disability (ID) include three domains of adaptive deficits: the conceptual, social and practical. Substantial intra-individual differences between domains can be considered an ID domain discrepancy. METHOD: We explored the associations between ID domains, discrepancies and epilepsy in 189 adults (mean age = 47.9; SD = 15.6). Each DSM-5 ID domain was assessed separately, using subscales of the Vineland II for the social and practical domains, and psychological instruments, including intelligence tests, for the conceptual domain. A set of standardised criteria is proposed to identify an ID domain discrepancy. RESULTS: An ID domain discrepancy seemed to be present in about one-third of subjects and was particularly present in subjects with moderate ID (53.4%). Impairment in the social domain was most often the reason for the discrepancy. The presence of a discrepancy was significantly related to a focal (localised) epilepsy type (OR = 2.3, P = .028) and a mixed seizure type (OR = 1.4, P = .009). Epilepsy characteristics that are indicative of a more severe and refractory epilepsy, including various seizure types, a high seizure frequency, a combined epilepsy type (both focal and generalised epilepsy) and an early age at onset, were significantly related to more severe impairments in conceptual, social and practical adaptive behaviour (all P values <.01). CONCLUSIONS: With a substantial proportion of the subjects who had both ID and epilepsy with an ID discrepancy, professionals should be aware of this and take all domains of ID into account when studying or working with this vulnerable population.

The POMONA-ESP project methodology: Collecting data on health indicators for people with intellectual developmental disorders.

BACKGROUND: People with intellectual developmental disorders have significant health disparities and a lack of proper attention to their health needs. They have been underrepresented in scientific research, and very few studies have been carried out using a representative randomized sample. The aim of this study was to describe the methods used in the POMONA-ESP project to recruit a representative and randomized sample of participants with intellectual developmental disorders. METHODS: The POMONA-ESP project is an observational cross-sectional study. It aims to explore the health status of people with intellectual developmental disorders across Spain and the use they make of health services. RESULTS AND CONCLUSIONS: The results of the POMONA-ESP project may have a major impact on people with intellectual developmental disorders and society in general. It is the first study to obtain geographically representative epidemiological data from a large sample, information that is fundamental to improving care and healthcare planning for people with intellectual developmental disorders.

Assessment of Foot Shape in Children and Adolescents with Intellectual Disability: A Pilot Study.

BACKGROUND Available publications provide little evidence pertaining to assessment of foot shape in children with intellectual disability. The aim of this study was to assess the parameters of foot shape in children and adolescents with intellectual disability and to evaluate the relationship between the degree of disability and these parameters. MATERIAL AND METHODS The study involved 90 individuals aged 7-15 years, including 45 subjects with mild and moderate levels of intellectual disability (study group) and 45 peers with normal intellectual development (control group). Each participant was subjected to photogrammetric assessment of foot shape based on the projection moire effect. RESULTS Analysis of the relationship between the disability level and the assessed parameters showed that the length of the right (p=0.006) and left (p=0.004) foot, as well as Wejsflog's rate for the right (p<0.001) and left (p<0.001) foot, were significantly higher among children with mild disability, whereas GAMMA angle of the right (p=0.028) and left (p=0.006) foot was significantly higher among children with moderate disability. CONCLUSIONS The findings show a significant relationship between the degree of disability and the assessed foot parameters. Significant differences between the subjects with intellectual disability and the control group were identified in the basic parameters defining foot structure.

Sanjad-Sakati Syndrome: Oral Health Care.

OBJECTIVES: The aim of this report is to describe the orofacial manifestations and dental management of a girl with Sanjad-Sakati syndrome. CLINICAL PRESENTATION AND INTERVENTION: The facial features included microcephaly, thin lips, beaked nose, low set ears, and a retrognathic mandible. An oral examination revealed oligodontia/hypodontia, small dental arches, a high arched palate, and a deep overbite and increased overjet. Oral rehabilitation involved full coverage prosthetic crowns on the upper central incisors, stainless steel crowns on the lower molars, and removable partial prostheses to replace missing teeth. CONCLUSION: Recognition of orofacial features might help in the diagnosis of Sanjad-Sakati syndrome. Dental management of affected patients might be complicated by intellectual, neurological, and endocrine abnormalities.

[Aging in people with autism spectrum disorder].

Autism spectrum disorder is characterized by a qualitative alteration in social interaction and communication associated with restricted interests and stereotyped behaviors. This condition will accompany people throughout their lives, with variations in their evolution. Our objectives were to know the evolutionary characteristics of people with autistic spectrum disorder, analyzing cognitive, behavioral, health, mortality and their needs in the aging stage, which will guide the planning of specific support resources. We analyze studies related to the evolution in adult life in people with this disorder, with or without identified entities, and socio-health conditions that should be considered in the aging process. The knowledge about aging in people with autism is still scarce and it is difficult to define a specific pattern because this will depend, among other factors, on the etiology, the degree, the presence of intellectual disability and/or epilepsy, and the scope in where live, which can even condition the life expectancy. Aging has been associated with mood disorders, depression, deterioration in executive functions and episodic memory, although it is difficult to differentiate it from natural aging in people with typical development. The identification of a specific entity will allow to know the possible evolution and prevent complications in syndromes that may be associated with autism: fragile X, Down, Angelman, Rett and Williams, for that reason we rank the genetic and neurological consultation.

Mendelian disorders of the epigenetic machinery: tipping the balance of chromatin states.

Mendelian disorders of the epigenetic machinery are a newly delineated group of multiple congenital anomaly and intellectual disability syndromes resulting from mutations in genes encoding components of the epigenetic machinery. The gene products affected in these inherited conditions act in trans and are expected to have widespread epigenetic consequences. Many of these syndromes demonstrate phenotypic overlap with classical imprinting disorders and with one another. The various writer and eraser systems involve opposing players, which we propose must maintain a balance between open and closed chromatin states in any given cell. An imbalance might lead to disrupted expression of disease-relevant target genes. We suggest that classifying disorders based on predicted effects on this balance would be informative regarding pathogenesis. Furthermore, strategies targeted at restoring this balance might offer novel therapeutic avenues, taking advantage of available agents such as histone deacetylase inhibitors and histone acetylation antagonists.

Computer face-matching technology using two-dimensional photographs accurately matches the facial gestalt of unrelated individuals with the same syndromic form of intellectual disability.

BACKGROUND: Massively parallel genetic sequencing allows rapid testing of known intellectual disability (ID) genes. However, the discovery of novel syndromic ID genes requires molecular confirmation in at least a second or a cluster of individuals with an overlapping phenotype or similar facial gestalt. Using computer face-matching technology we report an automated approach to matching the faces of non-identical individuals with the same genetic syndrome within a database of 3681 images [1600 images of one of 10 genetic syndrome subgroups together with 2081 control images]. Using the leave-one-out method, two research questions were specified: 1) Using two-dimensional (2D) photographs of individuals with one of 10 genetic syndromes within a database of images, did the technology correctly identify more than expected by chance: i) a top match? ii) at least one match within the top five matches? or iii) at least one in the top 10 with an individual from the same syndrome subgroup? 2) Was there concordance between correct technology-based matches and whether two out of three clinical geneticists would have considered the diagnosis based on the image alone? RESULTS: The computer face-matching technology correctly identifies a top match, at least one correct match in the top five and at least one in the top 10 more than expected by chance (P < 0.00001). There was low agreement between the technology and clinicians, with higher accuracy of the technology when results were discordant (P < 0.01) for all syndromes except Kabuki syndrome. CONCLUSIONS: Although the accuracy of the computer face-matching technology was tested on images of individuals with known syndromic forms of intellectual disability, the results of this pilot study illustrate the potential utility of face-matching technology within deep phenotyping platforms to facilitate the interpretation of DNA sequencing data for individuals who remain undiagnosed despite testing the known developmental disorder genes.

Identifying classes of persons with mild intellectual disability or borderline intellectual functioning: a latent class analysis.

BACKGROUND: Persons with mild intellectual disability or borderline intellectual functioning are often studied as a single group with similar characteristics. However, there are indications that differences exist within this population. Therefore, the aim of this study was to identify classes of persons with mild intellectual disability or borderline intellectual functioning and to examine whether these classes are related to individual and/or environmental characteristics. METHODS: Latent class analysis was performed using file data of 250 eligible participants with a mean age of 26.1 (SD 13.8, range 3-70) years. RESULTS: Five distinct classes of persons with mild intellectual disability or borderline intellectual functioning were found. These classes significantly differed in individual and environmental characteristics. For example, persons with a mild intellectual disability experienced fewer problems than those with borderline intellectual disability. CONCLUSIONS: The identification of five classes implies that a differentiated approach is required towards persons with mild intellectual disability or borderline intellectual functioning.

An International Perspective on Feigned Mental Disabilities: Conceptual Issues and Continuing Controversies.

In forensic contexts, an increased prevalence of feigned symptom presentations should be expected, although it will probably vary by the context and specific forensic issue. Forensic experts should examine this possibility proactively while maintaining a balanced perspective that actively considers clinical data for both feigning and genuine responding. Psychological measures and standardized methods developed for feigning and other response styles can facilitate these often complex determinations. The current article provides an international perspective on the issue of feigned mental disabilities. In particular, important conceptual issues are discussed, such as the categorical versus dimensional approaches to feigning, and the advisability of well-defined rather than single-point cut scores for accuracy in clinical decision-making. Salient problems of differential diagnosis include a spectrum from malingering and factitious disorders to somatoform and conversion disorders. In rendering these important diagnostic distinctions, the questions of motivations and intentions remain key. However, the establishment of motivation cannot be facilely assumed from the context. Instead, forensic psychologists and psychiatrists bear the professional burden of carefully evaluating motivation and recognizing the clinical reality that sometimes the motivation in especially challenging cases may not be fully determined. Copyright © 2017 John Wiley & Sons, Ltd.

[Determinants of psychotropic medication in adults with mild or moderate intellectual disabilities]. / Bedingungsfaktoren psychopharmakologischer Behandlung bei leichter oder mittelgradiger Intelligenzminderung.

BACKGROUND: During the past years the provision of mental healthcare for adults with intellectual disabilities (ID) has repeatedly been criticized; however, the number of relevant studies is still relatively few. OBJECTIVE: The aim of the present study was to identify determinants for utilization of mental healthcare services and prescription of psychotropic medication in adults with mild to moderate ID. MATERIAL AND METHODS: Analyses were based on data from 417 adults with mild to moderate ID, which had been collected within the cross-sectional MEMENTA study in three different regions of Germany. Logistic regression analyses were conducted to identify clinical and sociodemographic variables as predictors of utilization of mental healthcare services (n = 282) and psychotropic medication (n = 351). RESULTS: Utilization of healthcare services and psychotropic medication were both associated with mental disorders and problem behavior. In addition, the likelihood of being treated with psychotropic medication and antipsychotic drugs was higher in adults living in residential homes. CONCLUSION: The findings indicate a lack of adherence to existing guidelines in the treatment of adults with ID living in residential homes.

The implications of the new approach to classification: Adults with an intellectual disability.

The new ILAE classification offers the potential for clarity and improved translation of the understanding of the nature of epilepsy in people with an intellectual disability. This is particularly true in the use of the term genetic epilepsy and the removal of the term cryptogenic. However, the definition of the "dyscognitive" nature of seizures needs greater definition in those with coexistent cognitive impairment. This is of particular importance when ameliorating risk associated with impaired consciousness. This article is part of a Special Issue entitled "The new approach to classification: Rethinking cognition and behavior in epilepsy".

Novel VPS13B Mutations in Three Large Pakistani Cohen Syndrome Families Suggests a Baloch Variant with Autistic-Like Features.

BACKGROUND: Cohen Syndrome (COH1) is a rare autosomal recessive disorder, principally identified by ocular, neural and muscular deficits. We identified three large consanguineous Pakistani families with intellectual disability and in some cases with autistic traits. METHODS: Clinical assessments were performed in order to allow comparison of clinical features with other VPS13B mutations. Homozygosity mapping followed by whole exome sequencing and Sanger sequencing strategies were used to identify disease-related mutations. RESULTS: We identified two novel homozygous deletion mutations in VPS13B, firstly a 1 bp deletion, NM_017890.4:c.6879delT; p.Phe2293Leufs*24, and secondly a deletion of exons 37-40, which co-segregate with affected status. In addition to COH1-related traits, autistic features were reported in a number of family members, contrasting with the "friendly" demeanour often associated with COH1. The c.6879delT mutation is present in two families from different regions of the country, but both from the Baloch sub-ethnic group, and with a shared haplotype, indicating a founder effect among the Baloch population. CONCLUSION: We suspect that the c.6879delT mutation may be a common cause of COH1 and similar phenotypes among the Baloch population. Additionally, most of the individuals with the c.6879delT mutation in these two families also present with autistic like traits, and suggests that this variant may lead to a distinct autistic-like COH1 subgroup.

Refinement of genotype-phenotype correlation in 18 patients carrying a 1q24q25 deletion.

Interstitial deletion 1q24q25 is a rare rearrangement associated with intellectual disability, growth retardation, abnormal extremities and facial dysmorphism. In this study, we describe the largest series reported to date, including 18 patients (4M/14F) aged from 2 days to 67 years and comprising two familial cases. The patients presented with a characteristic phenotype including mild to moderate intellectual disability (100%), intrauterine (92%) and postnatal (94%) growth retardation, microcephaly (77%), short hands and feet (83%), brachydactyly (70%), fifth finger clinodactyly (78%) and facial dysmorphism with a bulbous nose (72%), abnormal ears (67%) and micrognathia (56%). Other findings were abnormal palate (50%), single transverse palmar crease (53%), renal (38%), cardiac (38%), and genital (23%) malformations. The deletions were characterized by chromosome microarray. They were of different sizes (490 kb to 20.95 Mb) localized within chromosome bands 1q23.3-q31.2 (chr1:160797550-192912120, hg19). The 490 kb deletion is the smallest deletion reported to date associated with this phenotype. We delineated three regions that may contribute to the phenotype: a proximal one (chr1:164,501,003-167,022,133), associated with cardiac and renal anomalies, a distal one (chr1:178,514,910-181,269,712) and an intermediate 490 kb region (chr1:171970575-172460683, hg19), deleted in the most of the patients, and containing DNM3, MIR3120 and MIR214 that may play an important role in the phenotype. However, this genetic region seems complex with multiple regions giving rise to the same phenotype.

Mortality Rates in the General Irish Population Compared to those with an Intellectual Disability from 2003 to 2012.

BACKGROUND: Historically, there has been higher and earlier mortality among people with intellectual disability as compared to the general population, but there have also been methodological problems and differences in the available studies. METHOD: Data were drawn from the 2012 National Intellectual Disability Database and the Census in Ireland. A standardized mortality ratio (SMR) was calculated, as well as average age at death. Ratios and differences were further examined for the influence of age, gender and level of intellectual disability. RESULTS: Mortality in persons with intellectual disability was four times higher and they were, on average, dying 19 years earlier than peers in the general population. Women with intellectual disability were living longer than males with intellectual disability, but differences in survival as compared to the general population were greater for these women. There was little change in average age at death over 10 years, and death was earlier the more severe the level of intellectual disability. DISCUSSION: The use of mortality ratios rather than average age at death alone is recommended, as well as greater standardization in use of data sets including the whole population, given high levels of earlier deaths in people with intellectual disability.

Expanding the clinical and mutational spectrum of Kaufman oculocerebrofacial syndrome with biallelic UBE3B mutations.

Biallelic mutations of UBE3B have recently been shown to cause Kaufman oculocerebrofacial syndrome (also reported as blepharophimosis-ptosis-intellectual disability syndrome), an autosomal recessive condition characterized by hypotonia, developmental delay, intellectual disability, congenital anomalies, characteristic facial dysmorphic features, and low cholesterol levels. To date, six patients with either missense mutations affecting the UBE3B HECT domain or truncating mutations have been described. Here, we report on the identification of homozygous or compound heterozygous UBE3B mutations in six additional patients from five unrelated families using either targeted UBE3B sequencing in individuals with suggestive facial dysmorphic features, or exome sequencing. Our results expand the clinical and mutational spectrum of the UBE3B-related disorder in several ways. First, we have identified UBE3B mutations in individuals who previously received distinct clinical diagnoses: two sibs with Toriello-Carey syndrome as well as the patient reported to have a "new" syndrome by Buntinx and Majewski in 1990. Second, we describe the adult phenotype and clinical variability of the syndrome. Third, we report on the first instance of homozygous missense alterations outside the HECT domain of UBE3B, observed in a patient with mildly dysmorphic facial features. We conclude that UBE3B mutations cause a clinically recognizable and possibly underdiagnosed syndrome characterized by distinct craniofacial features, hypotonia, failure to thrive, eye abnormalities, other congenital malformations, low cholesterol levels, and severe intellectual disability. We review the UBE3B-associated phenotypes, including forms that can mimick Toriello-Carey syndrome, and suggest the single designation "Kaufman oculocerebrofacial syndrome".

The accuracy of the Child and Adolescent Intellectual Disability Screening Questionnaire (CAIDS-Q) in classifying severity of impairment: a brief report.

BACKGROUND: Severity of intellectual disability (ID) is associated with a range of outcomes for the individual and having an indication of severity can help inform support needs. Previous research has not evaluated whether screening tools can accurately ascertain severity category in addition to providing a red flag for the presence of ID. METHODS: We used multi-category receiver operating characteristic (ROC) analysis to assess whether the Child and Adolescent Intellectual Disability Screening Questionnaire (CAIDS-Q) could be used clinically to classify individuals (n = 191) aged between 12 and 18 according to British Psychological Society (BPS) categories of severity of impairment. RESULTS: The volume under the surface statistic (VUS) was 0.59. The optimal cut-points estimated based on the ROC surface and Youden Index provided correct classification probabilities for the severe, significant and non-ID groups of 0.44, 0.63 and 0.86 and 0.79, 0.29 and 0.88 respectively. CONCLUSIONS: While the CAIDS-Q can accurately discriminate between those with and without ID, and provides a heuristic for severity of ID, the results indicate that it does not reliably identify whether an individual falls into the severe or significant category of intellectual impairment.