-
Developmental Medicine and Child... Jul 2021
Topics: Caregivers; Child; Developmental Disabilities; Family; Humans; Patient-Centered Care
PubMed: 34080190
DOI: 10.1111/dmcn.14905 -
Cells Feb 2020Succinic semialdehyde dehydrogenase deficiency (SSADH-D) is a genetic disorder that results from the aberrant metabolism of the neurotransmitter γ-amino butyric acid... (Review)
Review
Succinic semialdehyde dehydrogenase deficiency (SSADH-D) is a genetic disorder that results from the aberrant metabolism of the neurotransmitter γ-amino butyric acid (GABA). The disease is caused by impaired activity of the mitochondrial enzyme succinic semialdehyde dehydrogenase. SSADH-D manifests as varying degrees of mental retardation, autism, ataxia, and epileptic seizures, but the clinical picture is highly heterogeneous. So far, there is no approved curative therapy for this disease. In this review, we briefly summarize the molecular genetics of SSADH-D, the past and ongoing clinical trials, and the emerging features of the molecular pathogenesis, including redox imbalance and mitochondrial dysfunction. The main aim of this review is to discuss the potential of further therapy approaches that have so far not been tested in SSADH-D, such as pharmacological chaperones, read-through drugs, and gene therapy. Special attention will also be paid to elucidating the role of patient advocacy organizations in facilitating research and in the communication between researchers and patients.
Topics: Adult; Amino Acid Metabolism, Inborn Errors; Animals; Child; Clinical Trials as Topic; Developmental Disabilities; Disease Models, Animal; Enzyme Replacement Therapy; Genetic Therapy; Humans; Mice; Molecular Targeted Therapy; Mutation; Succinate-Semialdehyde Dehydrogenase; gamma-Aminobutyric Acid
PubMed: 32093054
DOI: 10.3390/cells9020477 -
Journal of Intellectual Disability... Oct 2022Research regarding the accuracy of co-morbid psychiatric diagnoses in individuals with intellectual and developmental disabilities (IDD) is sparse. Yet correct...
BACKGROUND
Research regarding the accuracy of co-morbid psychiatric diagnoses in individuals with intellectual and developmental disabilities (IDD) is sparse. Yet correct diagnostic assignment is vital so that effective and appropriate treatment can be implemented, especially for the large numbers of individuals requiring expensive and restrictive behavioural health crisis services.
METHOD
A retrospective review of de-identified data from multidisciplinary specialty team assessments completed for 50 individuals with ID (IntellectualDisability) with and without ASD and unresolved behavioural health challenges was conducted. The accuracy and reliability of the psychiatric diagnoses upon referral were compared with the diagnoses after the comprehensive team evaluation, and within-individual diagnostic agreement was calculated. The agreement between the Mood and Anxiety Semi-Structured interview tool (MASS) and the full team evaluation was also calculated. The influence of demographic and clinical characteristics on diagnostic agreement was explored.
RESULTS
The most common chief complaints upon referral were aggression to others and self-injurious behaviour. Individuals were taking a median of six medications (interquartile range: 5 to 7); 80% were taking an antipsychotic medication. The most common medical conditions were constipation (70%) and gastroesophageal reflux disease (52%). Measures of interrater reliability of the referral diagnoses with the team assessment were below 0.5 (kappa range: -0.04 to 0.39), with the exception of ruling out dementia (kappa = 0.85). The interrater reliability estimates for the MASS evaluations for depression and anxiety were higher (kappa = 0.69 and 0.64) and reflected higher sensitivity and PPV. The odds of any referral diagnosis being confirmed by team evaluation were low: 0.25 (range: 0 to 0.67). The level of diagnostic agreement for each patient was not significantly attributable to demographic or clinical characteristics, although effect sizes indicate a possible positive relationship to age and the number of prescribed psychotropic medications at referral.
CONCLUSION
Individuals in the current study had serious psychiatric and behavioural problems despite psychiatric care in their communities. The majority of psychiatric diagnoses provided upon referral were not supported by the multidisciplinary specialty team's assessment. In addition to possible diagnostic inaccuracy, the group in the study suffered from multiple medical co-morbidities and were exposed to polypharmacy. Results emphasise the importance of multidisciplinary evaluation by clinicians with expertise in neurodevelopmental disabilities when people with ID with and without ASD have complex behavioural health needs that are unresponsive to usual care. In addition, based on agreement with the full team evaluation, the MASS shows promise as an assessment tool, especially with regards to identifying anxiety and depression.
Topics: Autism Spectrum Disorder; Child; Developmental Disabilities; Humans; Intellectual Disability; Psychotropic Drugs; Reproducibility of Results; Self-Injurious Behavior
PubMed: 35974452
DOI: 10.1111/jir.12972 -
Journal of Dental Education Aug 2022The objective of this study was to investigate the perceptions and experiences of dental students with regards to treating adults with developmental disabilities (AWDDs).
OBJECTIVES
The objective of this study was to investigate the perceptions and experiences of dental students with regards to treating adults with developmental disabilities (AWDDs).
METHODS
Semi-structured interviews were conducted with three groups of participants: experts who extensively work with AWDDs (n = 3), students who had no clinical training to treat AWDDs (n = 3), and students who had completed their clinical training to treat AWDDs (n = 8). One-on-one interviews were conducted in-person or via video call with each participant. Interviews were transcribed, coded, and analyzed for themes.
RESULTS
Experts described their motivations for working with AWDDs. Students in both groups identified the challenges of working with AWDDs and highlighted the impact of the informal curriculum as well as the increased importance of clinical training. Students who had received clinical training described the clinical rotation as a transformative learning experience that instilled a sense of health advocacy. There was alignment of themes between all three groups in terms of skills desired, acquired, and required to work with AWDDs; however, the students who had received clinical training and the experts differed on their opinion of the relative importance of the skills they developed.
CONCLUSIONS
The alignment of perceptions between students and experts is promising and demonstrates the successes of the existing curriculum. The misalignment between students and experts highlights areas in the curriculum that can be improved through adjustments and augmentation.
Topics: Adult; Child; Curriculum; Dental Health Services; Developmental Disabilities; Humans; Learning; Perception; Qualitative Research; Students, Dental
PubMed: 35332547
DOI: 10.1002/jdd.12927 -
Infectious Disorders Drug Targets 2020
Topics: Child; Communicable Diseases; Developing Countries; Developmental Disabilities; Humans
PubMed: 32696729
DOI: 10.2174/187152652003200720151816 -
Compendium of Continuing Education in... Mar 2023People with intellectual and developmental disabilities (IDDs) commonly have complex healthcare challenges. An IDD is a condition that is a result of an abnormality...
People with intellectual and developmental disabilities (IDDs) commonly have complex healthcare challenges. An IDD is a condition that is a result of an abnormality beginning during a person's neurodevelopment, often occurring in utero but also possibly occurring up to age 18. Any injury or maldevelopment of the nervous system can often result in lifelong health complications in this population, including those involving intellect, language, motor skills, vision, hearing, swallowing, behavior, autism, seizures, digestion, and many other areas. Individuals with IDDs often have multiple health complications, and their care is usually provided by a number of different healthcare providers, including a primary care provider, various healthcare specialists who focus on their particular areas of concern, an oral health provider, and a behavioral specialist(s), if needed. The American Academy of Developmental Medicine and Dentistry appreciates that integrated care is essential to providing care to those with IDDs. The name of the organization itself includes both medical and dental aspects, and the organization's guiding principles include the concepts of integrated care, person-centered and family-centered approaches, and a deep appreciation for the importance of values and inclusion in a community. Continuing to provide education and training to healthcare practitioners is a key to improving health outcomes for individuals with IDDs. Additionally, focusing on the importance of integrated care will ultimately lead to a reduction in health disparities and improve access to quality healthcare services.
Topics: Humans; Child; Adolescent; Developmental Disabilities; Health Personnel; Oral Health; Delivery of Health Care, Integrated
PubMed: 36878260
DOI: No ID Found -
Developmental Medicine and Child... Jul 2022
Topics: Child; Developmental Disabilities; Humans; Intellectual Disability; Language
PubMed: 35642089
DOI: 10.1111/dmcn.15231 -
The American Journal of Geriatric... Jan 2022Adults with intellectual and developmental disabilities (IDD) are living longer, yet research about the medical and psychiatric needs of older adults still lags behind...
OBJECTIVE
Adults with intellectual and developmental disabilities (IDD) are living longer, yet research about the medical and psychiatric needs of older adults still lags behind that of younger individuals with IDD. The aim of this study was to assess age-related differences in the mental health presentations of adults with IDD.
METHODS
Fully deidentified data for adults 30 years and older were extracted from the START (Systemic, Therapeutic, Assessment, Resources, and Treatment) Information Reporting System, a deidentified database housed at the Center for START Services. Caregivers and START team documents reported psychiatric diagnoses, service use, recent stressors, and challenging behaviors. t Tests, Mann Whitney U tests, χ tests, and multinominal logistic regression models were used to compare the two age groups, 30-49 years (n = 1,188) versus 50 years and older (n = 464).
RESULTS
Older adults had more medical conditions, fewer reported psychiatric conditions, and were more likely to be taking more psychiatric medications compared to younger adults, after adjusting for demographic variables, disability level, and number of recent stressors.
CONCLUSION
Although older individuals reported fewer psychiatric diagnoses, they were more likely to take higher numbers of psychiatric medications and have more medical conditions. Clinicians and researchers ought to devote more attention to the healthcare needs of older adults with IDD, a vulnerable group exposed to polypharmacy and at risk of adverse events.
Topics: Aged; Caregivers; Child; Developmental Disabilities; Humans; Intellectual Disability; Polypharmacy
PubMed: 34210596
DOI: 10.1016/j.jagp.2021.05.022 -
Developmental Medicine and Child... Jun 2024In 2022, the International League Against Epilepsy revised their classification of epilepsy syndromes for clinicians to better understand the relationships between... (Review)
Review
In 2022, the International League Against Epilepsy revised their classification of epilepsy syndromes for clinicians to better understand the relationships between different epilepsy syndromes, their underlying causes, and their associated developmental and behavioral features. This review highlights portions of the current classification with an emphasis on epilepsy syndromes that readily present with developmental challenges and provides a unique framework, based on electroencephalography, to easily identify and understand these syndromes. Included in this review are a helpful categorization scheme with visual aid, descriptions of updated epilepsy syndromes, figures of relevant identifiers of syndrome and information regarding future directions toward treatment and research. Covered syndromes include developmental and epileptic encephalopathy, Dravet syndrome, Rasmussen syndrome, and infantile epileptic spasm syndrome, among others. WHAT THIS PAPER ADDS: The revised epilepsy syndrome classification by the International League Against Epilepsy aims to improve the outcomes for children with epilepsy. The electroencephalography features of epilepsy syndromes are grouped based on a categorization model. This model allows clinicians to understand overlapping phenotypes and aid with both identification and diagnosis.
Topics: Humans; Epileptic Syndromes; Child; Developmental Disabilities; Electroencephalography; Epilepsy
PubMed: 38140949
DOI: 10.1111/dmcn.15838 -
Journal of Autism and Developmental... Jun 2021Amidst the ongoing novel Coronavirus disease pandemic, children with developmental disabilities warrant specific attention to minimise having disproportionate... (Review)
Review
Amidst the ongoing novel Coronavirus disease pandemic, children with developmental disabilities warrant specific attention to minimise having disproportionate consequences. These children are especially vulnerable to the effects of the pandemic due to (1) Greater healthcare needs, (2) Dependency on community-based services and (3) Mental health concerns. Healthcare professionals, public health systems and the society needs to come together to advocate for these children by optimising access to healthcare and community intervention services, promoting mental well-being and caregiver welfare. The consequences of missed present-day opportunities might only be evident in the years to come in these children. Hence, despite the prolonged pandemic, with consequent limitations in availability of resources, children with developmental disabilities should continue to be supported.
Topics: Autism Spectrum Disorder; COVID-19; Child; Developmental Disabilities; Health Personnel; Health Services Accessibility; Humans; Mental Health; Pandemics; SARS-CoV-2
PubMed: 32816170
DOI: 10.1007/s10803-020-04670-6