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Objective: The objective was to explore the characteristics of risk factors in children with cerebral palsy (CP), focusing on the effects of single risk factors and the number of risk factors on the classification, GMFCS level, and comorbidities of children with CP., Methods: The medical records of children with CP hospitalized from 2015 to 2023 were reviewed. The effects of nine risk factors, such as hyperbilirubinemia, asphyxia, and HIE, on the classification, GMFCS level and comorbidities of children with CP were studied., Results: In Part 1, among the 536 children with CP, 476 (88.8%) had obvious risk factors. Preterm birth and/or low birth weight were the most common risk factor (243 cases (45.3%)). CP combined with two risk factors was the most common, with 147 cases (27.4%). In Part 2, neonatal seizures were associated with epilepsy, and HIE and hyperbilirubinemia were associated with intellectual disability. Asphyxia was associated with high GMFCS levels and mixed CP. Preterm birth and/or low birth weight was associated with spastic diplegia, and hyperbilirubinemia was associated with involuntary movement. In Part 3, the number of risk factors in children with CP with epilepsy and/or hearing impairment seemed to be lower, but those with spastic quadriplegia were more likely to have more risk factors (≥ 4). In the six groups with 1-6 risk factors, intellectual disability and a GMFCS level ≥ level IV were more common in the various risk factor groups, but spastic hemiplegia and ataxia were less common., Conclusion: Most children with CP have apparent risk factors, and the combination of two risk factors is relatively common. Preterm birth/low birth weight is the most common risk factor. The analysis of single risk factors revealed that the risk factors were related to the classification, GMFCS level and comorbidities. This correlation is consistent with the current research. Risk factors were more common in children with severe CP, high GMFCS levels, spastic quadriplegia, and intellectual disability., Competing Interests: Declarations. Ethics approval and consent to participate: This study was approved by the Ethics Committee of Jiamusi University (No. jmsukf-2023012). Owing to the retrospective design and deidentification of the data, this study did not require patient consent. Consent for publication: This was not applicable for this study. Competing interests: The authors declare no competing interests., (© 2024. The Author(s).)

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.

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.

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.

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.

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 Author(s) 2020. Published by Oxford University Press. All rights reserved. For Permissions, please email: journals.permissions@oup.com.)

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.

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., (© 2018 John Wiley & Sons Ltd.)

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., (© 2019 S. Karger AG, Basel.)

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., (© 2018 MENCAP and International Association of the Scientific Study of Intellectual and Developmental Disabilities and John Wiley & Sons Ltd.)

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.

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.

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.

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., Competing Interests: Competing interests: None declared., (© Article author(s) (or their employer(s) unless otherwise stated in the text of the article) 2018. All rights reserved. No commercial use is permitted unless otherwise expressly granted.)

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., (© 2018 The Author(s) Published by S. Karger AG, Basel.)

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.

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.

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.

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.

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., (Copyright © 2017 John Wiley & Sons, Ltd.)

Purpose of Review: Borderline intellectual functioning (BIF) is a descriptive v-code that is often used, especially in forensic settings, as if it were a full-fledged disorder. Various historical and other aspects of this classification are reviewed, and commentary is made on the question of whether to upgrade BIF to a regular psychiatric category, or to eliminate it by folding it into an already recently expanded category of intellectual developmental disorder (IDD)., Recent Findings: Full-scale intelligence quotient (IQ) is an outmoded concept that is decreasingly being used. For example, DSM-5 states that measures of 'executive functioning' (reasoning, planning, consequential thinking, attention, self-regulation, and so on) are often more meaningful that full-scale IQ as diagnostic indicators of IDD. Even the definition of BIF in DSM-5 no longer specifies an IQ score range., Summary: BIF is a descriptive v-code (rather than a typical psychiatric category), which started out as a sub-type of IDD (formerly mental retardation or intellectual disability) but morphed into its current status when the IQ ceiling for IDD was changed from minus one standard deviation (85) to minus two standard deviations (70). It has been suggested that, as people with BIF often have adjustment problems, the BIF category be elevated to the status of a formal psychiatric disorder. In this article, a contrary opinion is expressed, namely that the BIF category be dropped.

Objective: Disorders caused by impairments in the parathyroid hormone (PTH) signalling pathway are historically classified under the term pseudohypoparathyroidism (PHP), which encompasses rare, related and highly heterogeneous diseases with demonstrated (epi)genetic causes. The actual classification is based on the presence or absence of specific clinical and biochemical signs together with an in vivo response to exogenous PTH and the results of an in vitro assay to measure Gsa protein activity. However, this classification disregards other related diseases such as acrodysostosis (ACRDYS) or progressive osseous heteroplasia (POH), as well as recent findings of clinical and genetic/epigenetic background of the different subtypes. Therefore, the EuroPHP network decided to develop a new classification that encompasses all disorders with impairments in PTH and/or PTHrP cAMP-mediated pathway., Design and Methods: Extensive review of the literature was performed. Several meetings were organised to discuss about a new, more effective and accurate way to describe disorders caused by abnormalities of the PTH/PTHrP signalling pathway., Results and Conclusions: After determining the major and minor criteria to be considered for the diagnosis of these disorders, we proposed to group them under the term 'inactivating PTH/PTHrP signalling disorder' (iPPSD). This terminology: (i) defines the common mechanism responsible for all diseases; (ii) does not require a confirmed genetic defect; (iii) avoids ambiguous terms like 'pseudo' and (iv) eliminates the clinical or molecular overlap between diseases. We believe that the use of this nomenclature and classification will facilitate the development of rationale and comprehensive international guidelines for the diagnosis and treatment of iPPSDs., (© 2016 European Society of Endocrinology.)

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"., (Copyright © 2015 Elsevier Inc. All rights reserved.)

This article describes a systematic approach to subgroup classification based on a classification framework and sequential steps involved in the subgrouping process. The sequential steps are stating the purpose of the classification, identifying the classification elements, using relevant information, and using clearly stated and purposeful subgroup classification terms. This systematic approach reflects current changes in the field of intellectual disability (ID), the modern and social understanding of ID, and the multiple purposes for classification.

Introduction: The combination of cerebellar ataxia and spasticity is common. However, autosomal dominant genetic diseases presenting with spastic-ataxia are a smaller group. Pyramidal signs have been frequently observed in several SCA subtypes, particularly in spinocerebellar ataxia type 1., Methods: We prospectively evaluated the pyramidal signs and spasticity in SCA1 patients, and correlated the data with genetic and clinical features., Results: In this study, we observed that spasticity may be an early and presenting feature of SCA1, since 3 patients had pyramidal signs and spasticity as the first neurological sign. SCA1 patients with spasticity were significantly younger., Conclusion: SCA1 may rarely present with pure spastic paraplegia, resembling hereditary spastic paraplegia, before the appearance of cerebellar signs. This observation may confuse the neurologist when a genetic testing is requested for an autosomal dominant spastic paraplegia, directing research to hereditary spastic paraplegia group., (Copyright © 2015 Elsevier Ltd. All rights reserved.)

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., (© 2015 John Wiley & Sons Ltd.)

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&#95;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.

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., (© 2015 Wiley Periodicals, Inc.)

Objectives: We know from daily experience in the care of people with intellectual disabilities that the usually applied bio-psycho-social model is not sufficient in the psychiatric treatment of that patient-group. A fourth dimension considering cognitive and socio-emotional development should be added. A specific algorithm for evaluating the emotional level of a person (called "SEO") has demonstrated its effectiveness. Aim of this study is to test its feasibility in everyday practice in a hospital team of a psychiatric ward., Methods: The SEO was used to evaluate 18 patients with intellectual disability by a multi-professional team in a psychiatric hospital ward. The time for completing the SEO was measured within a time period of 8 weeks. Additionally, the influence on patients' problem behaviour in the time period after completion of the SEO was measured., Results: The average time needed for completing one SEO was 11 minutes. After the second week, there was no further shortening of the time necessary for completion of the SEO, nor was their any further improvement in the quality of scoring the SEO by the team. After completion of the SEO, behavioral problems of the patients improved significantly in the following time period., Conclusion: The SEO seems to be time-economic and feasible for evaluating the socio-emotional development, which can be well integrated in the routine of a psychiatric hospital team. The benefit for patients is the significant reduction of problem behaviour after SEO-evaluation in general., (© Georg Thieme Verlag KG Stuttgart · New York.)

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., (© 2014 MENCAP and International Association of the Scientific Study of Intellectual and Developmental Disabilities and John Wiley & Sons Ltd.)

When the U.S. Supreme Court held that persons with mental retardation (now called intellectual disability) could not be sentenced to death, it left the question of how to define the condition to the states. That issue was raised in Hall v. Florida, which challenged one state's "bright-line rule" barring consideration of defendants with IQs over 70. In an endorsement of the professional consensus, the justices ruled that a more flexible approach that takes into account both intellectual and adaptive functioning is required. The Court's posture may bode well for its acceptance of mental health expertise in future cases.

Co-existence of attention-deficit/hyperactivity disorder, oppositional defiant disorder, tic disorders, developmental coordination disorder, language disorder, learning problems, and autism spectrum disorder and sharing of symptoms across disorders, contribute to the typical clinical presentation in child psychiatry as well as in developmental medicine. The acronym ESSENCE refers to Early Symptomatic Syndromes Eliciting Neurodevelopmental Clinical Examinations. Affected children are brought for clinical assessment because of impairing symptoms that raise concern before the age of about 5 years in general development, communication and language, social inter-relatedness, motor coordination, attention, activity, behaviour, mood, and/or sleep. Such children are usually in need of a range of expert assessments, but a holistic approach is rarely taken from the start. Major problems in at least one ESSENCE domain before 5 years of age predict poor mental health later in life. Expert ESSENCE centres for assessment, habilitation and treatment of these children are needed.

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".

Aim: Mental retardation (MR) subjects comprise a considerable amount of the community and are susceptible to oral and periodontal problems due to insufficient oral care. The aim of this cross-sectional study was to determine the oral health and periodontal status of MR patients in Turkey with regard to periodontal indices and Decay missed filling teeth (DMFT) scores and compare findings according to severity of the MR., Materials and Methods: One hundred and five MR patients were included to the study and divided into 3 groups according to MR severity diagnoses. Demographic variables like age, gender, disabled sibling, BMI, living an institution and clinical parameters like plaque index (PI), gingival index (GI), bleeding on probing (BOP), probing depth (PD), clinical attachment level (CAL), missing teeth and DMFT scores were recorded from all subjects. Appropriate statistical analyses were used to compare the findings., Results: There were no statistically significant differences between groups according to age, gender, disabled sibling, living status and DMFT scores. Clinical periodontal indices and the number of missing teeth were showed a statistically significant increasing trend with the severity of MR (p < 0.05). Correlation analysis showed significant positive correlations between PI and periodontal disease measures like GI, PD, CAL and BOP and also between PI and DMFT (p < 0.05)., Conclusion: The deteriorated teeth condition and deprived periodontal health of MR patients may be most likely caused by the poor oral hygiene and may be worsen with the severity of the MR. Clinical significance: Knowledge of oral and periodontal status of mental retardation patients has great importance for public health and family education.

Intellectual disability (ID) is frequent in the general population, with 1 in 50 individuals directly affected worldwide. The multiple etiologies include X-linked ID (XLID). Among syndromic XLID, few syndromes present severe ID associated with postnatal microcephaly and midline stereotypic hand movements. We report on three male patients with ID, midline stereotypic hand movements, hypotonia, hyperkinesia, strabismus, as well as seizures (2/3), and non-inherited and postnatal onset microcephaly (2/3). Using array CGH and exome sequencing we characterised two truncating mutations in IQSEC2, namely two de novo intragenic duplication mapped to the Xp11.22 region and a nonsense mutation in exon 7. We propose that truncating mutations in IQSEC2 are responsible for syndromic severe ID in male patients and should be screened in patients without mutations in MECP2, FOXG1, CDKL5 and MEF2C.

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.

Mental retardation affects about 2-3% of the population and is often associated with comorbidities. So far, more than 450 different medical conditions are known with mental retardation as a sign and it is assumed that there are many more yet to be defined. The diagnosis of the underlying entity allows for a few specific optimization of cognitive function, but usually improves the treatment of comorbidities. Furthermore, the detection of the underlying genetic defect allows the specification of the risk of recurrence and enables prenatal diagnosis for future pregnancies of persons at risk in the family. Recent findings suggest that especially in diseases that are associated with defective synaptic signal transduction may be targeted by specific drugs for improvement of cognitive performance in the near future.

Aim: We examined the implications of using the Full Scale IQ (FSIQ) versus the General Abilities Index (GAI) for determination of intellectual disability using the Wechsler Intelligence Scales for Children, fourth edition (WISC-IV)., Method: Children referred for neuropsychological assessment (543 males, 290 females; mean age 10y 5mo, SD 2y 9mo, range 6-16y) were administered the WISC-IV and the Adaptive Behavior Assessment System, second edition (ABAS-II)., Results: GAI and FSIQ were highly correlated; however, fewer children were identified as having intellectual disability using GAI (n=159) than when using FSIQ (n=196). Although the 44 children classified as having intellectual disability based upon FSIQ (but not GAI) had significantly higher adaptive functioning scores than those meeting intellectual disability criteria based upon both FSIQ and GAI, mean adaptive scores still fell within the impaired range. FSIQ and GAI were comparable in predicting impairments in adaptive functioning., Interpretation: Using GAI rather than FSIQ in intellectual disability diagnostic decision-making resulted in fewer individuals being diagnosed with intellectual disability; however, the mean GAI of the disqualified individuals was at the upper end of criteria for intellectual impairment (standard score 75), and these individuals remained adaptively impaired. As GAI and FSIQ were similarly predictive of overall adaptive functioning, the use of GAI for intellectual disability diagnostic decision-making may be of limited value., (© 2013 Mac Keith Press.)

Background: In individuals with an intellectual disability, speech dysfluencies are more common than in the general population. In clinical practice, these fluency disorders are generally diagnosed and treated as stuttering rather than cluttering., Purpose: To characterise the type of dysfluencies in adults with intellectual disabilities and reported speech difficulties with an emphasis on manifestations of stuttering and cluttering, which distinction is to help optimise treatment aimed at improving fluency and intelligibility., Method: The dysfluencies in the spontaneous speech of 28 adults (18-40 years; 16 men) with mild and moderate intellectual disabilities (IQs 40-70), who were characterised as poorly intelligible by their caregivers, were analysed using the speech norms for typically developing adults and children. The speakers were subsequently assigned to different diagnostic categories by relating their resulting dysfluency profiles to mean articulatory rate and articulatory rate variability., Results: Twenty-two (75%) of the participants showed clinically significant dysfluencies, of which 21% were classified as cluttering, 29% as cluttering-stuttering and 25% as clear cluttering at normal articulatory rate. The characteristic pattern of stuttering did not occur., Conclusion: The dysfluencies in the speech of adults with intellectual disabilities and poor intelligibility show patterns that are specific for this population. Together, the results suggest that in this specific group of dysfluent speakers interventions should be aimed at cluttering rather than stuttering., Learning Outcomes: The reader will be able to (1) describe patterns of dysfluencies in the speech of adults with intellectual disabilities that are specific for this group of people, (2) explain that a high rate of dysfluencies in speech is potentially a major determiner of poor intelligibility in adults with ID and (3) describe suggestions for intervention focusing on cluttering rather than stuttering in dysfluent speakers with ID., (Copyright © 2013 Elsevier Inc. All rights reserved.)

This article provides the dentist with a background on disabilities, education, practice and provision of services related to statutory and regulatory requirements, particularly the Americans with Disabilities Act anrid the California Fair Employment and Housing Act.

Intellectual development disorders (IDDs) are a set of development disorders characterized by significantly limited cognitive functioning, learning disorders, and disorders related to adaptive skills and behavior. Previously grouped under the term "intellectual disability," this problem has not been widely studied or quantified in Latin America. Those affected are absent from public policy and do not benefit from government social development and poverty reduction strategies. This article offers a critical look at IDDs and describes a new taxonomy; it also proposes recognizing IDDs as a public health issue and promoting the professionalization of care, and suggests an agenda for research and regional action. In Latin America there is no consensus on the diagnostic criteria for IDDs. A small number of rehabilitation programs cover a significant proportion of the people who suffer from IDDs, evidence-based services are not offered, and health care guidelines have not been evaluated. Manuals on psychiatric diagnosis focus heavily on identifying serious IDDs and contribute to underreporting and erroneous classification. The study of these disorders has not been a legal, social science, or public health priority, resulting in a dearth of scientific evidence on them. Specific competencies and professionalization of care for these persons are needed, and interventions must be carried out with a view to prevention, rehabilitation, community integration, and inclusion in the work force.

Adults with intellectual and developmental disabilities (I/DD) are increasingly presenting to their health care professionals with concerns related to growing older. One particularly challenging clinical question is related to the evaluation of suspected cognitive decline or dementia in older adults with I/DD, a question that most physicians feel ill-prepared to answer. The National Task Group on Intellectual Disabilities and Dementia Practices was convened to help formally address this topic, which remains largely underrepresented in the medical literature. The task group, comprising specialists who work extensively with adults with I/DD, has promulgated the following Consensus Recommendations for the Evaluation and Management of Dementia in Adults With Intellectual Disabilities as a framework for the practicing physician who seeks to approach this clinical question practically, thoughtfully, and comprehensively., (Copyright © 2013 Mayo Foundation for Medical Education and Research. Published by Elsevier Inc. All rights reserved.)

This final rule adopts, without change, the notice of proposed rulemaking (NPRM) we published in the Federal Register on January 28, 2013. We are replacing the term "mental retardation'' with "intellectual disability'' in our Listing of Impairments (listings) that we use to evaluate claims involving mental disorders in adults and children under titles II and XVI of the Social Security Act (Act) and in other appropriate sections of our rules. This change reflects the widespread adoption of the term "intellectual disability'' by Congress, government agencies, and various public and private organizations.

Introduction: The Borderline Intellectual Functioning (BIF) is conceptualized as the frontier that delimits "normal" intellectual functioning from intellectual disability (IQ 71-85). In spite of its magnitude, its prevalence cannot be quantified and its diagnosis has not yet been defined., Objectives: To elaborate a conceptual framework and to establish consensus guidelines., Method: A mixed qualitative methodology, including frame analysis and nominal groups techniques, was used. The literature was extensively reviewed in evidence based medical databases, scientific publications, and the grey literature. This information was studied and a framing document was prepared., Results: Scientific publications covering BIF are scarce. The term that yields a bigger number of results is "Borderline Intelligence". The Working Group detected a number of areas in which consensus was needed and wrote a consensus document covering the conclusions of the experts and the framing document., Conclusions: It is a priority to reach an international consensus about the BIF construct and its operative criteria, as well as to develop specific tools for screening and diagnosis. It is also necessary to define criteria that enable its incidence and prevalence. To know what interventions are the most efficient, and what are the needs of this population, is vital to implement an integral model of care centred on the individual., (Copyright © 2011 SEP y SEPB. Published by Elsevier Espana. All rights reserved.)

Mental retardation (MR) is a definition which comprises a series of conditions whose common feature is an intellectual handicap that develops before the age of 18, afflicting 2-3% of the world's population. The classification of MR into different categories is determined by the extent of the handicap instead of its cause, which often remains unrecognized. Sometimes, MR runs in a family, characterizing familial MR, and those cases permit an in-depth look into the genetic causes and consequences of the problem. However, almost no work is available on the prevalence of familial MR among the registered MR cases, possibly because familial MR is a term with no clear definition. The scope of this work is to review the topic and discuss the implications of different genetic and environmental factors, which characterize particular categories of familial cases, suggesting a practical classification of familial MR, which is important for epidemiologic studies and also for counseling in the clinic. Some of the aspects are discussed under the perspective of a newly-developed country like Brazil.