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PubMed2004

Current advances in bone health of disabled children.

PURPOSE OF REVIEW: Bone health is now recognized to contribute to overall lifetime management of children, adolescents, and adults with disabling conditions including physical and intellectual disability and with many chronic disease processes. Such disorders have multiple components, with aspects of care covering a wide number of specialist practices. This review will highlight advances in understanding the nature of bone mass accumulation through childhood and adolescence, the impingement of a spectrum of chronic and disabling diseases and their treatments on bone, and will address current approaches to interpretation of bone mass in the growing skeleton and interventional strategies for improving outcomes for this group. RECENT FINDINGS: Increased skeletal fragility in the disabled child is well recognized. Insights into the contributions of skeletal size and bone strength in males and females have altered interpretation of data, allowing a new focus on determinants of future bone health, particularly with regard to the contributions of growth and puberty. Strategies to address bone health including public and medical education concerning consumption of calcium, appropriate selection of vitamin D preparations, pubertal contribution to phases of growth and possible specialist use of newer drugs, such as bisphosphonates where indicated, are changing the outlook for this large group. SUMMARY: Implications of these changed understandings provide a new focus on maximizing bone mass accumulation by the end of adolescence within the constraints of what is possible to achieve for an individual and for provision of an holistic approach to bone health.

Adrenal Cortex Hormones↗

PubMed1999

Incompetence in practice in health care in the Netherlands: report of a study.

Recent health legislation in the Netherlands makes specific provisions for patients who are not (fully) capable of acting reasonably in their own interests. If this legislation is actually to improve the legal position of incompetent people, it must be clear to whom these provisions apply. The description in modern legislation is that the person 'is regarded as not being able to make a reasonable assessment of his interests in the issue in question'. The law does not provide criteria according to which competence can be assessed in practice. In the present study, data on the competence assessment of 133 clients were collected by means of a poll held among those people who decide on competence in practice and a total of 485 assessors were polled. Client files were also examined with the intention of gaining insight into the carers' motivation to involve or exclude clients from the decision-making process. Finally, interviews were conducted with clients who have a mild or moderate intellectual disability. Large differences appeared to exist between the various assessors in the assessment of the general competence of clients. A general assessment of a client's competence is not sufficient in daily practice; therefore, partial competence was also assessed. Opinions about the partial competence of clients varied considerably among assessors. A ranking was compiled of discriminating characteristics in the qualification of competence or incompetence.

Adult↗

PubMed1992

The intensive mothercraft program--a report.

A report on the Intensive Mothercraft Program (IMP) developed at The Queen Elizabeth Hospital (TEQH) Adelaide. This program was developed in 1987 mainly in response to needs demonstrated by parents, who were physically and/or intellectually disabled.

Persons with Disabilities↗

PubMed2004

Microcephaly associated with abnormal gyral pattern.

Primary microcephaly is a heterogeneous group of cerebral malformations either with a relatively well-preserved or an abnormal gyral pattern. We describe the MRI findings and clinical features of 14 children with the combination of microcephaly and an abnormal gyral pattern. All children except one were Arabs and nine out of the 14 patients were born to consanguineous parents. Seven patients showed features of a simplified gyral pattern with relatively preserved posterior fossa structures. Two boys had a cortical malformation in the agyria-pachygyria spectrum; one of these two patients showed agenesis of the corpus callosum and severe cerebellar hypoplasia as well. The microcephaly was associated with polymicrogyria and leukoencephalopathy in two patients, with cortical dysplasia and hypogenesis of the corpus callosum in one patient, with agyria-pachygyria with callosal and pontocerebellar dysplasia in one patient, and a simplified gyral pattern with severe cerebellar hypoplasia in one case. One patient died in the neonatal period and three in infancy. All patients, who survived the neonatal period, had developmental delay, intellectual disability, and neurological deficits, and nine suffered from epilepsy.

Cerebral Cortex↗

PubMed2023

De novo missense variants in ZBTB47 are associated with developmental delays, hypotonia, seizures, gait abnormalities, and variable movement abnormalities.

The collection of known genetic etiologies of neurodevelopmental disorders continues to increase, including several syndromes associated with defects in zinc finger protein transcription factors (ZNFs) that vary in clinical severity from mild learning disabilities and developmental delay to refractory seizures and severe autism spectrum disorder. Here we describe a new neurodevelopmental disorder associated with variants in ZBTB47 (also known as ZNF651), which encodes zinc finger and BTB domain-containing protein 47. Exome sequencing (ES) was performed for five unrelated patients with neurodevelopmental disorders. All five patients are heterozygous for a de novo missense variant in ZBTB47, with p.(Glu680Gly) (c.2039A>G) detected in one patient and p.(Glu477Lys) (c.1429G>A) identified in the other four patients. Both variants impact conserved amino acid residues. Bioinformatic analysis of each variant is consistent with pathogenicity. We present five unrelated patients with de novo missense variants in ZBTB47 and a phenotype characterized by developmental delay with intellectual disability, seizures, hypotonia, gait abnormalities, and variable movement abnormalities. We propose that these variants in ZBTB47 are the basis of a new neurodevelopmental disorder.

Child↗

PubMed2026

The Homozygous p.(Arg215Ter) Variant in XRCC2 Is Associated With Atypical Fanconi Anemia Without Major Hematological Abnormalities in Childhood.

Fanconi Anemia (FA) is the most frequent inherited bone marrow failure syndrome. A role for the XRCC2 gene in FA was suspected in 2012 and confirmed in 2016, but only two affected individuals have been described thus far, and no long-term follow-up is available. Here we present two young related adults born to consanguineous parents, in whom we identified the homozygous p.(Arg215Ter) variant in XRCC2. Both patients presented with mild intellectual disability, microcephaly, distinctive facial features, short stature, thumb abnormalities, and abnormal skin pigmentation. Unlike in FA, DEB test resulted negative in peripheral blood during childhood and no cytopenia, clonal evolution, or other hematological complications were detected until the age of 19 and 20 years, respectively. Our report suggests that the homozygous p.(Arg215Ter) variant in XRRC2 causes a distinctive FA-like disorder, characterized by the typical physical characteristics seen in FA, but a lack of major hematological manifestations in childhood, and the presence of a more pronounced neurodevelopmental phenotype than that seen in FA.

Humans↗

PubMed2022

Biallelic variants in ZNF142 lead to a syndromic neurodevelopmental disorder.

Biallelic variants of the gene encoding for the zinc-finger protein 142 (ZNF142) have recently been associated with intellectual disability (ID), speech impairment, seizures, and movement disorders in nine individuals from five families. In this study, we obtained phenotype and genotype information of 26 further individuals from 16 families. Among the 27 different ZNF142 variants identified in the total of 35 individuals only four were missense. Missense variants may give a milder phenotype by changing the local structure of ZF motifs as suggested by protein modeling; but this correlation should be validated in larger cohorts and pathogenicity of the missense variants should be investigated with functional studies. Clinical features of the 35 individuals suggest that biallelic ZNF142 variants lead to a syndromic neurodevelopmental disorder with mild to moderate ID, varying degrees of delay in language and gross motor development, early onset seizures, hypotonia, behavioral features, movement disorders, and facial dysmorphism. The differences in symptom frequencies observed in the unpublished individuals compared to those of published, and recognition of previously underemphasized facial features are likely to be due to the small sizes of the previous cohorts, which underlines the importance of larger cohorts for the phenotype descriptions of rare genetic disorders.

Humans↗

PubMed1996

Further evaluation of the Dementia Questionnaire for Persons with Mental Retardation (DMR).

The provisional diagnostic criteria for the Dementia Questionnaire for Persons with Mental Retardation (DMR), developed during a prior study, were evaluated in a 5-year longitudinal follow-up of 33 elderly institutionalized persons, aged 70 years and over, and 45 institutionalized persons with Down's syndrome, aged 35 years and over, with no dementia in the diagnosis at initial evaluation. During the study period, dementia was diagnosed according to DSM-III-R criteria in five elderly subjects and five subjects with Down's syndrome, whereas a diagnosis of possible dementia was made in two elderly subjects and three subjects with Down's syndrome. A DMR diagnosis based on the criterion increase over time of the sum of cognitive scores (SCS) > or = 7 points and/or of the sum of social scores (SOS) > or = 5 points' resulted in a sensitivity of 100% for both groups and a specificity of 73% in the elderly sub-group and 75% in the sub-group with Down's syndrome, independent of the (premorbid) intellectual level. A diagnosis based on a single completion of the DMR, using available information on former performance levels, also produced favourable results in the present study. However, this diagnostic approach is certainly not recommended for studies of larger samples because of the use of different methods measuring functional levels and different standards for levels of intellectual disability.

Aged↗

PubMed1997

The remediation of executive functions in children with cognitive disorders: the Vygotsky-Luria neuropsychological approach.

The demands of methods of effective remediation arising from the Vygotsky-Luria approach to the structure and development of higher mental functions are discussed. These demands suggest the structuring of a therapeutic interaction in accordance with the rules of the internalization process, taking into account a weak component of the child's functional systems and the emotional involvement of a child in that interaction. In order to provide a theoretical framework for developing methods of executive function remediation, the approaches of Vygotsky and Luria, as well as modern views on the structure and development of executive functions, are discussed. The Method of Numerical Sequence is presented as an example of the application of the general principles discussed above. The Method of Numerical Sequence provides a background for following the development of successive processing, programming and planning, and can be considered as a complement to the development of the metacognitive aspects of self-regulation. This method was verified experimentally in groups of 5-8-year-old children with intellectual disability.

Child↗

PubMed2003

Addressing the need for education: curriculum development for nurses about intellectual and developmental disabilities.

People with disabilities and national and international agencies are voicing their views, forcing health care providers to look at how people with disabilities are treated in the health care system and to find ways to help them achieve equal access to quality care. Education about nursing care of patients with I/DD is limited in basic nursing education programs and for nurses who are in practice. A number of developmental disabilities nursing projects are addressing this need with curriculum development that has validated the need for education and has begun testing the various methods of instruction. As the curriculum is disseminated in written or Internet-accessible formats, nurses in education and practice will be able to find resources that target a specific topic area or a set of comprehensive instructions to acquire a better understanding of the comprehensive needs of people with I/DD and better ways to provide care. There is a need for a greater integration of curriculum about nursing care of people with developmental disabilities into basic nursing education at all levels and further evaluation of the impact of this curriculum on nursing care for people with I/DD. The hope is that these efforts can improve the education of nurses and other health care providers for the direct benefit of individuals with intellectual disabilities.

Adolescent↗

PubMed2026

Bi-allelic loss-of-function variants in JKAMP cause a neurodevelopmental syndrome associated with dysregulation of GPR37 trafficking.

The endoplasmic reticulum (ER) serves as a key hub for protein homeostasis, maintaining a strict quality-control system that ensures only properly folded proteins reach their destinations, while misfolded proteins are degraded via ER-associated degradation (ERAD) or selective ER-phagy. JKAMP, which encodes an ER-resident transmembrane protein involved in ERAD, has not previously been associated with human disease. Here, we report bi-allelic loss-of-function variants in JKAMP in 14 affected individuals from 10 unrelated families presenting with a neurodevelopmental syndrome characterized by intellectual disability, developmental delay, seizures, hypotonia, microcephaly, and dysmorphic features. An in vivo zebrafish model lacking jkamp recapitulated key aspects of the human disorder, including developmental abnormalities and impaired myelin production, further corroborating its pathogenic role. Mechanistic studies identified GPR37, a brain-enriched orphan G protein-coupled receptor (GPCR) and known JKAMP interactor, as a critical downstream effector. GPR37 plays essential roles in dopaminergic signaling, inflammatory pain regulation, neuroprotection, and myelination. Loss of JKAMP resulted in defective folding and degradation of GPR37, leading to its accumulation within the ER and impaired trafficking to the plasma membrane, likely due to impaired ER quality control. These findings establish JKAMP as a previously unrecognized contributor to human neurodevelopment and uncover a pathogenic mechanism linking ER protein quality control to GPCR regulation and neurological disease.

Humans↗

PubMed1991

Dental health of disabled children in Singapore.

The oral health status of the disabled has generally been poorer than the general population as the treatment and care afforded to them has been minimal. This paper examines the relationship of the various types of disabilities to dental health status. The dental status of a random sample of 322 disabled children aged between 6 and 18 years was assessed. The children had various disabilities: intellectual, hearing, visual, and musculo-skeletal. Most differences in the prevalence and severity of the dental conditions assessed among the children in the various disability groups were not significant. However, in comparison with normal schoolchildren aged 6 to 18, the disabled children had higher levels of disease and received less dental attention.

Adolescent↗

PubMed2003

Diagnostic Criteria for Psychiatric Disorders for Use with Adults with Learning Disabilities/Mental Retardation (DC-LD) and the diagnosis of anxiety disorders: a review.

BACKGROUND/METHODS: During the development of Diagnostic Criteria for Psychiatric Disorders for Use with Adults with Learning Disabilities[DC-LD] a literature review of diagnostic issues in anxiety disorders in adults with intellectual disability (ID) was undertaken using electronic and hand searching of journals. RESULTS: Relevant general concepts in the general population are reviewed briefly before those related specifically to adults with ID. The literature relating to the diagnosis of specific anxiety disorders is reviewed, although with the exception of obsessive compulsive disorder this consists mainly of case reports. Difficulties in the use of diagnostic systems developed for the general population for the diagnosis of anxiety disorders in adults with ID are frequently commented upon. CONCLUSIONS: It is concluded that anxiety disorders are well recognized in adults with ID, although their prevalence is uncertain, and that the use of modified diagnostic criteria may aid further research in this area.

Anxiety↗

PubMed2026

Novel splice-site and recurrent p.Arg729* CNKSR2 variants in ESES/CSWS: insights into sex-dependent expression.

PURPOSE: Pathogenic variants in CNKSR2 (Xp22.12) cause an X-linked neurodevelopmental disorder with intellectual disability, language impairment, and a distinctive epilepsy phenotype, including encephalopathy with status epilepticus during slow-wave sleep (ESES/CSWS). Hemizygous males are typically severely affected, whereas symptomatic females remain rare and incompletely characterized. We describe two unrelated patients with de novo CNKSR2 variants to expand the mutational and sex-dependent phenotypic spectrum of this disorder. METHODS: Both patients underwent clinical, electroencephalographic, and neuroimaging evaluation. CNKSR2 variants were identified by whole exome sequencing with parental segregation, and the splice-site variant was assessed in silico (SpliceAI, MaxEntScan, Human Splicing Finder). RESULTS: Patient 1, a 17-year-old female, harbored a novel canonical splice-site variant (c.64+1G>A) in the N-terminal region and presented with a relatively mild phenotype. In silico analysis supported abolition of the canonical donor splice site. Patient 2, an 8-year-old male, carried a de novo nonsense variant (c.2185C>T, p.Arg729*) and exhibited drug-resistant ESES, autism, and severe language impairment. p.Arg729* had previously been reported in one independent male. Our case represents its second independent occurrence, a CGA>TGA transition at a CpG dinucleotide consistent with a mutational hotspot. CONCLUSION: Together, these cases expand the mutational spectrum and provide further evidence for sex-dependent phenotypic variability in CNKSR2-related epilepsy. Our observations support the hypothesis that X-chromosome inactivation may contribute to phenotypic variability in females, although XCI was not assessed here, and support inclusion of CNKSR2 in epilepsy gene panels regardless of sex.

Humans↗

PubMed2003

Technology and the environment: supportive resource or barrier for people with developmental disabilities?

Findings from needs assessments and abandonment studies point to issues with health care providers, particularly in their ability to listen to the needs of the consumer and important others regarding AT-EI. Professionals need to listen to what people are telling them or, in many cases, what they are not telling them. Actions and nonverbal messages can speak very loudly. Strategies to communicate and collaborate with consumers need to be developed. Regardless of ability to communicate or the severity of the impairments the person may be experiencing, it is important to withhold judgments that may underestimate a person's potential or desire to be in control of life decisions. AT-EI service have often seen people labeled with severe or profound intellectual disabilities challenge that diagnosis after accessing a communication or access system. Likewise, a person with a severe disability has the right to supportive resources and to the same level of respect, dignity, and quality of life as any other member of society. Using the technology and adapting the environment to provide opportunities for consumers to "voice" their wishes and control their lives can be an effective strategy to collaborate. When focusing on a rights-based philosophy, recognizing the difference between physical independence (e.g., physical and/or cognitive ability to do a task by oneself) and self-care management (e.g., access to and power to manage the supportive resources to live in the community regardless of level of physical ability) is important. We all rely on supports in our lives, whether it be tools or technology to help us do a job or another person, yet when we evaluate people with disabilities, the expectation is for people to function independently [23,24]. They even receive lower scores on functional assessments if they are using a piece of technology to do an activity. By shifting the focus to management of and access to resources versus level of physical dependence or burden, health care professionals can play a role in linking people to such resources as AT-EI and related services and strategies to support community living. Such a shift in focus also enables professionals to validate interdependence; that is, the give-take relationships that people have with each other to support each other [25]. The use of AT-EI by people with developmental disabilities often involves an interdependent relationship in which another person may help set up the environment or technology and, in turn, the consumer can then reciprocate and engage in an activity or a relationship [1]. Health care professionals also need to better understand and take into consideration the social context, its influence on consumers' use or nonuse of AT-EI, and the long-term influence on community living and participation decisions [1]. Nurses can involve important others in the process by listening to and considering their needs, and ensuring that they are informed about options, the benefits of using AT-EI for the consumer and themselves, and how to set up and troubleshoot the AT-EI. In cases where important others are not supportive, health care professionals may be in a position to link the consumer with other consumers and advocacy groups such as Centers for Independent Living or Self Advocates Becoming Empowered that may offer that support as well as membership in a collective community engaged in systems change. Health care professionals can serve as a system interface by linking people to information and resources to make informed decisions [26]. Resources on developmental disability and health, common issues that may occur, and life course planning help people identify functional issues and early signs of accelerated aging and proactively use the environment and technology to stay in living situations of choice. Few health care professionals are well prepared to provide services to people with developmental disabilities as they age; a great need exists for providers of such specialized services and for proactive later-life screenings that can identify issues early and make the most use of AT-EI strategies to address aging issues [26,28]. At any given point in time in the life of people with developmental disabilities, many different professionals and systems may be involved in decisions that could include AT-EI. Medical, educational, vocational, independent living, and case management systems may all be working with the person; however, there is often limited or no communication between them, particularly as the person ages or transitions between settings. Health care professionals, even when they are working with an individual on a limited basis, can and should take on active roles in linking consumers and important others with other systems and should ensure that information about their AT-EI needs is transferred accurately between systems. Most likely, nurses may be in a role to refer a person to specialized services, whether they may be medical, rehabilitative, AT-EI-specific, or disability advocacy groups that can help support the person as they face barriers or seek out AT. Nurses may also be in a role to pass on important information about the person's health and medical status that can help to better inform AT-EI decisions to ensure the AT meets the person's needs across contexts. As an interface, nurses may assume a role as a supporting advocate for accessing resources, not as a gatekeeper who makes decisions for people. This includes referring individuals with developmental disabilities to people and groups that know how to get AT-EI, how to fund it, and how to troubleshoot it, and linking them to other people with disabilities who are sharing strategies in person and on-line. It also includes focusing beyond basic self-care and considers AT-EI strategies that enable a person to participate in high meaning activities and roles in the home and the community. Participation in activities identified as highly meaningful and important to the person, such as participating in a religious community, networking with other people on-line, gardening, or being a member of a community group, to name a few, can positively contribute to health, wellness, and quality of life; the challenge is to create and adapt the environment (social, physical, and societal) to support participation choices and control.

Adolescent↗

PubMedDate not supplied

A regional survey of the housing circumstances of families with children experiencing intellectual and motor disabilities.

Housing is an important aspect in promoting the home care of disabled children, but also one which is too often forgotten by professionals. The purpose of this study was to evaluate the housing conditions and the need for modifications, of 204 families with disabled children using technical aids. The housing condition of the families was good compared to average Finnish families with children. One hundred and sixty families had made no housing modifications, but 48 families had need for them, most often to bathrooms and toilets. The need increased with the severity of the children's motor and intellectual disabilities and the need to provide care in line with the number of technical aids in use. It is concluded that families with disabled children need more information on the possibilities for carrying out housing modifications, and that home visits by a case manager are important to evaluate environmental factors affecting the care.

Adolescent↗

PubMed1997

Intellectual handicap in contemporary psychiatry.

OBJECTIVE: To apprise readers of the 'state of play' in the psychiatry of intellectual handicap. METHOD: A review was conducted of relevant journals and conference abstracts covering a range of scientific aspects of intellectual disability. Those developments considered to be most significant were summarised. In addition, consideration is given to issues relevant to the politics of disability affecting psychiatric practice in Australia. RESULTS: There have been considerable developments in our understanding of the pathogenesis of intellectual handicap in pharmacotherapy and the behavioural therapies, in the taxonomy of psychopathology, in epidemiology, in delineation of behaviour phenotypes, and in assessment and measurement of psychopathology. CONCLUSION: Intellectual handicap and psychiatry have had a chequered relationship in Australia, but the two fields are now clearly moving again to a closer and more productive collaboration. Recent scientific advances have provided a stimulating environment for this increased activity and interest.

Australia↗

PubMed2006

Visual impairments in people with severe and profound multiple disabilities: an inventory of visual functioning.

BACKGROUND: The prevalence of visual impairments in people with severe and profound multiple disabilities (SPMD) is the subject of considerable debate and is difficult to assess. METHODS: In a typical Dutch care organization, all clients with SPMD (n = 76) participated in the study and specific instruments adapted to these clients (requiring a minimum of cooperation) were used to measure visual acuity, the visual field, binocular vision, contrast sensitivity, refractive errors and visual functioning behaviour. RESULTS: We found an unexpected 92% of clients with SPMD to have visual impairments. Previously, only 30% were known to have visual problems. None of the persons observed had normal visual acuity. Subnormal visual acuity was the best result. The severity of the visual impairment was related to the severity of the intellectual disability. In addition to the problem of acuity, impairments in the visual field, impaired contrast sensibility and impaired binocular functioning were found, as well as impaired visual attention, fixation and following. In 22% of the clients observed, refractive errors were found and glasses were advised. CONCLUSIONS: Consequences for caregiving and for modifications of the environment were discussed.

Adolescent↗