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.

Brief Report: Classifying Rates of Students with Autism and Intellectual Disability in North Carolina: Roles of Race and Economic Disadvantage.

We examined special education classifications among students aged 3-21 in North Carolina public schools, highlighting autism spectrum disorder (ASD) and intellectual disability (ID). Results revealed variability by county in ASD and ID prevalence, and in county-level ratios of ID vs. ASD classifications. Sociodemographic characteristics predicted proportion of ASD or ID within a county; correlations showed an association between race and ID, but not ASD. County's median household income predicted proportion of students classified as ASD and ID (opposite directions), controlling for number of students and gender. Variability was unlikely related to biological incidence, and more likely related to district/school practices, or differences in resources. Disparities warrant further examination to ensure that North Carolina's youth with disabilities access necessary, appropriate resources.

Inactivating PTH/PTHrP signaling disorders (iPPSDs): evaluation of the new classification in a multicenter large series of 544 molecularly characterized patients.

OBJECTIVE: Pseudohypoparathyroidism and related disorders belong to a group of heterogeneous rare diseases that share an impaired signaling downstream of Gsα-protein-coupled receptors. Affected patients may present with various combination of symptoms including resistance to PTH and/or to other hormones, ectopic ossifications, brachydactyly type E, early onset obesity, short stature and cognitive difficulties. Several years ago we proposed a novel nomenclature under the term of inactivating PTH/PTHrP signaling disorders (iPPSD). It is now of utmost importance to validate these criteria and/or improve the basis of this new classification. DESIGN: Retrospective study of a large international series of 459 probands and 85 relatives molecularly characterized. METHODS: Information on major and minor criteria associated with iPPSD and genetic results were retrieved from patient files. We compared the presence of each criteria according to the iPPSD subtype, age and gender of the patients. RESULTS: More than 98% of the probands met the proposed criteria for iPPSD classification. Noteworthy, most patients (85%) presented a combination of symptoms rather than a single sign suggestive of iPPSD and the overlap among the different genetic forms of iPPSD was confirmed. The clinical and molecular characterization of relatives identified familial history as an additional important criterion predictive of the disease. CONCLUSIONS: The phenotypic analysis of this large cohort confirmed the utility of the major and minor criteria and their combination to diagnose iPPSD. This report shows the importance of having simple and easily recognizable signs to diagnose with confidence these rare disorders and supports a better management of patients.

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.

The contemporary view of intellectual and developmental disabilities: Implications for psychologists.

BACKGROUND: The field of intellectual and developmental disabilities (IDD) is currently experiencing a significant transformation that encompasses an integrated approach, especially regarding shared aspects such as a focus on the human and legal rights, the eligibility for services and supports, and an emphasis on individualized supports provided within inclusive community-based environments. Accompanying this transformation is the increased need of precision in both the operational definitions of IDD-related constructs, and the terminology used to describe the respective construct. METHOD: the specialized literature was revised, and previous works on the subject by the authors were updated. RESULTS: This article provides psychologists with the current definition of intellectual disability, operational definitions of intellectual disability and developmental disabilities constructs and associated terminology, and the parameters of an integrated approach to disability. CONCLUSIONS: Implications for psychologists who are involved in diagnosis, classification, and planning supports for persons with intellectual or developmental disability are discussed.

Inactivating PTH/PTHrP Signaling Disorders.

Pseudohypoparathyroidism (PHP), pseudo-PHP, acrodysostosis, and progressive osseous heteroplasia are heterogeneous disorders characterized by physical findings, differently associated in each subtype, including short bones, short stature, a stocky build, ectopic ossifications (features associated with Albright's hereditary osteodystrophy), as well as laboratory abnormalities consistent with hormone resistance, such as hypocalcemia, hyperphosphatemia, and elevated parathyroid hormone (PTH) and thyroid-stimulating hormone levels. All these disorders are caused by impairments in the cAMP-mediated signal transduction pathway and, in particular, in the PTH/PTHrP signaling pathway: the main subtypes of PHP and related disorders are caused by de novo or autosomal dominantly inherited inactivating genetic mutations, and/or epigenetic, sporadic, or genetic-based alterations within or upstream of GNAS, PRKAR1A, PDE4D, and PDE3A. Here we will review the impressive progress that has been made over the past 30 years on the pathophysiology of these diseases and will describe the recently proposed novel nomenclature and classification. The new term "inactivating PTH/PTHrP signaling disorder," iPPSD: (1) defines the common mechanism responsible for all diseases, (2) does not require a confirmed genetic defect, (3) avoids ambiguous terms like "pseudo," and (4) eliminates the clinical or molecular overlap between diseases.

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.

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.

Psicosis, Discapacidad intelectual y trastornos conductuales: enfoque biopsicosocial / Psychosis, intellectual disability and behavioral disorders: biopsychosocial approach

Caso Clínico: Mujer, 23 años. Discapacidad intelectual. Asiste a colegio especial (no lee ni escribe). Institucionalizada. Motivo de ingreso: Paciente ingresa en octubre del 2017 traída por carabineros por ser encontrada en la calle bajo el efecto de múltiples sustancias, con ideación suicida. Días antes fue expulsada del hogar por agresión a cuidadoras. Diagnósticos de ingreso: Discapacidad intelectual moderado. Síndrome suicidal, Trastorno por dependencia a drogas. ¿Esquizofrenia hebefrénica? Evolución: Mantiene desajustes conductuales severos fluctuantes, con serias dificultades para manejar la rabia, lo que la lleva a tener conductas hetero y autoagresivas. Plan de tratamiento: Farmacológico (clozapina), Psicológico (TCC), Social (dispositivo adecuado post-alta). Clozapina para trastornos psicóticos en adultos con discapacidad intelectual. El principal riesgo de atribuir alguno de estos comportamientos a una supuesta "psicosis", es el de "medicalizar" y tratar de forma poco acertada. Es importante descartar factores ambientales y del aprendizaje (hábitos y conductas aprendidas, institucionalización, reacciones ante el estrés agudo.) La prevalencia de abuso y dependencia de sustancias en población con DI va desde el 0,5% al 2,6%. Lo cual es menor que la población general. Pacientes con DI y dependencia a drogas se asocia a otras enfermedades psiquiátricas (42-54%). Se ha informado que las personas con discapacidad intelectual en América Latina a menudo están institucionalizadas y escondidas de la sociedad en instalaciones deficientes y superpobladas.

Clinical Case: Female, 23 years old. Intellectual disability. He attends a special school (she does not read or write). Institutionalized. Reason for admission: Patient enters in October 2017 brought by police officers to be found in the street under the effect of multiple substances, with suicidal ideation. Days before she was expelled from the home because of assaulting caregivers. Admission diagnoses: Moderate intellectual disability. Suicidal syndrome, Disorder due to drug dependence. Hebephrenic schizophrenia? Evolution: Maintains fluctuating severe behavioral imbalances, with serious difficulties in managing rage, which leads to hetero and self-aggressive behaviors. Treatment plan: pharmacological (clozapine), Psychological (CBT), Social (adequate post-hospitalization discharge device). Clozapine for psychotic disorders in adults with intellectual disabilities. The main risk of attributing some of these behaviors to a supposed "psychosis" is that of "medicalizing" and dealing inappropriately. It is important to rule out environmental and learning factors (habits and behaviors learned, institutionalization, reactions to acute stress. The prevalence of substance abuse and dependence in the population with ID ranges from 0.5% to 2.6%. Which is less than the general population. Patients with ID and drug dependence are associated with other psychiatric illnesses (42-54%). It is reported that people with intellectual disabilty in Latin America are often institutionalized and hidden from society in poor and overcrowded facilities.

[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.

Envejecimiento en personas con trastorno del espectro autista / Aging in people with autism spectrum disorder

El trastorno del espectro autista se caracteriza por una alteración cualitativa en la interacción social y la comunicación, asociada a intereses restringidos y conductas estereotipadas. Esta condición acompañará a las personas a lo largo de toda la vida, con variaciones en su evolución. Nuestros objetivos fueron conocer las características evolutivas de las personas con trastorno del espectro autista, analizando aspectos cognitivos, conductuales, salud, mortalidad y sus necesidades en la etapa de envejecimiento, que permitan orientar la planificación de recursos específicos de apoyo. Se analizaron estudios relacionados con la evolución en la vida adulta en personas con este trastorno, con o sin entidades identificadas, y las condiciones sociosanitarias que deben ser consideradas en los procesos de envejecimiento. El conocimiento sobre el envejecimiento en personas con autismo es aún escaso y resulta difícil definir un patrón específico pues este dependerá, entre otros factores, de la etiología, el grado, la presencia de discapacidad intelectual y/o epilepsia, y el ámbito en el que viven, los cuales pueden incluso condicionar la expectativa de vida. El envejecimiento se ha asociado a trastornos del humor, depresión, deterioro en funciones ejecutivas y memoria episódica, aunque resulta difícil diferenciarlo del envejecimiento natural en personas con desarrollo típico. La identificación de una entidad específica permitirá conocer la posible evolución y prevenir complicaciones en síndromes que pueden estar asociados con autismo: X frágil, Down, Angelman, Rett y Williams, por ello jerarquizamos la consulta genética y neurológica.

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.

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.

Prevalence of physical conditions and multimorbidity in a cohort of adults with intellectual disabilities with and without Down syndrome: cross-sectional study.

OBJECTIVES: To investigate the prevalence of multimorbidity in adults with intellectual disabilities with and without Down syndrome. DESIGN: Large, population-based cross-sectional study. SETTING: The geographical area of one Health Board, Scotland. PARTICIPANTS: All adults (aged 16+ years) known to general practitioners to have intellectual disabilities and adults receiving services provided or paid by intellectual disabilities health or social work services. 1023/1562 potential participants took part (65.5%); 562 (54.9%) men and 461 (45.1%) women, aged 43.9 years (16-83 years). 186 had Down syndrome and 837 did not. MAIN OUTCOME MEASURES: The prevalence of International Statistical Classification of Diseases, 10th revision, physical health conditions and multimorbidity detected at a comprehensive health assessment. RESULTS: The mean number of physical health conditions/participant was 11.04, and 98.7% had multimorbidity. The most prevalent conditions are painful and/or disabling and, in some cases, life threatening. The five most prevalent were visual impairment, obesity, epilepsy, constipation and ataxic/gait disorders. The pattern of multimorbidity differs from that seen in the general population and is spread across the entire adult life course. The extent of multimorbidity in the adults with Down syndrome was similar to that of the adults without Down syndrome, while the prevalence of individual conditions differed. CONCLUSIONS: This robustly designed study with a large population found an extremely high prevalence of multimorbidity in adults with intellectual disabilities across the entire adult life course. This increases complexity of medical management that secondary healthcare services and medical education are not yet geared towards, as these tend to focus on single conditions. This is in addition to complexity due to limitations in communication and understanding. As the physical conditions within their multimorbidity also differ from that seen in the older general population, urgent attention is needed to develop the care pathways and guidelines that are required to inform and so improve their healthcare.

The road to 11th edition of the International Classification of Diseases: trajectories of scientific consensus and contested science in the classification of intellectual disability/intellectual developmental disorders.

PURPOSE OF REVIEW: To increase the expert knowledge-base on intellectual developmental disorders (IDDs) by investigating the typology trajectories of consensus formation in the classification systems up to the 11th edition of the International Classification of Diseases (ICD-11). This expert review combines an analysis of key recent literature and the revision of the consensus formation and contestation in the expert committees contributing to the classification systems since the 1950s. RECENT FINDINGS: Historically two main approaches have contributed to the development of this knowledge-base: a neurodevelopmental-clinical approach and a psychoeducational-social approach. These approaches show a complex interaction throughout the history of IDD and have had a diverse influence on its classification. Although in theory Diagnostic and Statistical Manual (DSM)-5 and ICD adhere to the neurodevelopmental-clinical model, the new definition in the ICD-11 follows a restrictive normality approach to intellectual quotient and to the measurement of adaptive behaviour. On the contrary DSM-5 is closer to the recommendations made by the WHO 'Working Group on Mental Retardation' for ICD-11 for an integrative approach. SUMMARY: A cyclical pattern of consensus formation has been identified in IDD. The revision of the three major classification systems in the last decade has increased the terminological and conceptual variability and the overall scientific contestation on IDD.

Intelligence and specific cognitive functions in intellectual disability: implications for assessment and classification.

PURPOSE OF REVIEW: Current diagnostic criteria for intellectual disability categorize ability as measured by IQ tests. However, this does not suit the new conceptualization of intellectual disability, which refers to a range of neuropsychiatric syndromes that have in common early onset, cognitive impairments, and consequent deficits in learning and adaptive functioning. A literature review was undertaken on the concept of intelligence and whether it encompasses a range of specific cognitive functions to solve problems, which might be better reported as a profile, instead of an IQ, with implications for diagnosis and classification of intellectual disability. RECENT FINDINGS: Data support a model of intelligence consisting of distinct but related processes. Persons with intellectual disability with the same IQ level have different cognitive profiles, based on varying factors involved in aetiopathogenesis. Limitations of functioning and many biopsychological factors associated with intellectual disability are more highly correlated with impairments of specific cognitive functions than with overall IQ. SUMMARY: The current model of intelligence, based on IQ, is of limited utility for intellectual disability, given the wide range and variability of cognitive functions and adaptive capacities. Assessing level of individual impairment in executive and specific cognitive functions may be a more useful alternative. This has considerable implications for the revision of the International Classification of Diseases and for the cultural attitude towards intellectual disability in general.