-
BMC Neurology Oct 2023Gills de la Tourette syndrome (TS) is a childhood-onset neurodevelopmental disorder manifested by motor and vocal tics. Kleefstra syndrome 1 (KS1), a rare genetic...
BACKGROUND
Gills de la Tourette syndrome (TS) is a childhood-onset neurodevelopmental disorder manifested by motor and vocal tics. Kleefstra syndrome 1 (KS1), a rare genetic disorder, is caused by haploinsufficiency of the EHMT1 gene and is characterized by intellectual disability (ID), childhood hypotonia, and distinctive facial features. Tourette-like syndrome in KS1 has rarely been reported.
CASE PRESENTATION
Here we describe a 7-year-old girl presenting involuntary motor and vocal tics, intellectual disability, childhood hypotonia, and dysmorphic craniofacial appearances, as well as comorbidities including attention deficit-hyperactivity disorder (ADHD), obsessive-compulsive disorder (OCD), and self-injurious behavior (SIB). The patient's CNV-seq testing revealed a de novo 320-kb deletion in the 9q34.3 region encompassing the EHMT1 gene.
CONCLUSIONS
This is the first case reporting Tourette-like syndrome secondary to KS1 with a de novo microdeletion in the EHMT1 gene. Our case suggests TS with ID and facial anomalies indicate a genetic cause and broadens the phenotypic and genotypic spectrum of both TS and KS1.
Topics: Child; Female; Humans; Heart Defects, Congenital; Histone-Lysine N-Methyltransferase; Intellectual Disability; Muscle Hypotonia; Tics; Tourette Syndrome
PubMed: 37817104
DOI: 10.1186/s12883-023-03417-x -
Pediatric Transplantation Dec 2023Historically, intellectual and developmental disability (IDD) has been considered an important factor in choosing potential recipients of organ transplants among many... (Review)
Review
BACKGROUND
Historically, intellectual and developmental disability (IDD) has been considered an important factor in choosing potential recipients of organ transplants among many transplant centers. This study evaluated the temporal changes at the national and regional levels in the proportion of heart transplantation in children with IDD.
METHODS
Children younger than 19 years in the United Network for Organ Sharing (UNOS) database who received heart transplants from 2010 to 2021 were included in this study. The patients were grouped into only definitive intellectual disability, both definitive intellectual and motor disability, only definitive motor disability, and no developmental disability. Multinomial logistic regressions were used to examine the proportion of heart transplants in each category for the whole cohort and each geographic transplant region.
RESULTS
There were 4273 pediatric heart transplant recipients included in the study. From 2010 to 2021, the percentages of pediatric heart transplants increased from 3.8% (95% CI, 0.01-0.05) to 5.8% (95% CI, 0.03-0.08) in children with only definitive intellectual disability (OR 0.07; 95% CI, 0.02-0.1, p < .002), from 3.4% (95% CI, 0.01-0.05) to 6.6% (95% CI, 0.04-0.09) in children with both definitive intellectual disability and motor disability (OR 0.09; 95% CI, 0.05-0.13, p < .001), and from 5.2% (95% CI, 0.02-0.07) to 8.3% (95% CI, 0.05-0.1) in children with only definitive motor disability (OR 0.06; 95% CI, 0.02-0.09, p < .002). There were several regional differences in the proportion of children with intellectual and developmental disabilities who received heart transplants.
CONCLUSION
There is increasing inclusion of children diagnosed with intellectual and developmental disabilities in heart transplantation. A review of the current allocation policies may address the marked geographic variations found in this study.
Topics: Child; Humans; Developmental Disabilities; Intellectual Disability; Disabled Persons; Motor Disorders; Heart Transplantation
PubMed: 37842949
DOI: 10.1111/petr.14620 -
Journal of Intellectual Disability... Oct 2023
Topics: Humans; Intellectual Disability; Mental Health
PubMed: 37691388
DOI: 10.1111/jir.13084 -
Epilepsia May 2024Fully elucidating the burden that Lennox-Gastaut syndrome (LGS) places on individuals with the disease and their caregivers is critical to improving outcomes and quality... (Review)
Review
Fully elucidating the burden that Lennox-Gastaut syndrome (LGS) places on individuals with the disease and their caregivers is critical to improving outcomes and quality of life (QoL). This systematic literature review evaluated the global burden of illness of LGS, including clinical symptom burden, care requirements, QoL, comorbidities, caregiver burden, economic burden, and treatment burden (PROSPERO ID: CRD42022317413). MEDLINE, Embase, and the Cochrane Library were searched for articles that met predetermined criteria. After screening 1442 deduplicated articles and supplementary manual searches, 113 articles were included for review. A high clinical symptom burden of LGS was identified, with high seizure frequency and nonseizure symptoms (including developmental delay and intellectual disability) leading to low QoL and substantial care requirements for individuals with LGS, with the latter including daily function assistance for mobility, eating, and toileting. Multiple comorbidities were identified, with intellectual disorders having the highest prevalence. Although based on few studies, a high caregiver burden was also identified, which was associated with physical problems (including fatigue and sleep disturbances), social isolation, poor mental health, and financial difficulties. Most economic analyses focused on the high direct costs of LGS, which arose predominantly from medically treated seizure events, inpatient costs, and medication requirements. Pharmacoresistance was common, and many individuals required polytherapy and treatment changes over time. Few studies focused on the humanistic burden. Quality concerns were noted for sample representativeness, disease and outcome measures, and reporting clarity. In summary, a high burden of LGS on individuals, caregivers, and health care systems was identified, which may be alleviated by reducing the clinical symptom burden. These findings highlight the need for a greater understanding of and better definitions for the broad spectrum of LGS symptoms and development of treatments to alleviate nonseizure symptoms.
Topics: Humans; Lennox Gastaut Syndrome; Cost of Illness; Caregivers; Quality of Life; Intellectual Disability; Caregiver Burden
PubMed: 38456647
DOI: 10.1111/epi.17932 -
Molecular Genetics and Metabolism Nov 2023Biallelic pathogenic variants in PGAP3 cause a rare glycosylphosphatidyl-inositol biogenesis disorder, PGAP3-CDG. This multisystem condition presents with a... (Review)
Review
Biallelic pathogenic variants in PGAP3 cause a rare glycosylphosphatidyl-inositol biogenesis disorder, PGAP3-CDG. This multisystem condition presents with a predominantly neurological phenotype, including developmental delay, intellectual disability, seizures, and hyperphosphatemia. Here, we summarized the phenotype of sixty-five individuals including six unreported individuals from our CDG natural history study with a confirmed PGAP3-CDG diagnosis. Common additional features found in this disorder included brain malformations, behavioral abnormalities, cleft palate, and characteristic facial features. This report aims to review the genetic and metabolic findings and characterize the disease's phenotype while highlighting the necessary clinical approach to improve the management of this rare CDG.
Topics: Humans; Abnormalities, Multiple; Glycosylation; Phenotype; Intellectual Disability; Seizures; Congenital Disorders of Glycosylation; Carboxylic Ester Hydrolases; Receptors, Cell Surface
PubMed: 37647829
DOI: 10.1016/j.ymgme.2023.107688 -
Journal of Intellectual Disabilities :... Sep 2023Psychiatric disorders are common in youth with intellectual and developmental disabilities. This is a vulnerable group of children whose behavioural problems often have...
Family dynamics, trauma, and child-related characteristics: examining factors associated with co-occurring mental health problems in clinically-referred children with and without an intellectual (and developmental) disability.
Psychiatric disorders are common in youth with intellectual and developmental disabilities. This is a vulnerable group of children whose behavioural problems often have more complicated care needs than other children, which can place a great deal of stress on their families. However, the association of family mental health issues, level of intellectual ability, and diagnostic co-morbidity in children is relatively under-studied. In the present study, we investigated the relationship among child diagnoses, family mental health problems, risk for self-injury, and disruption in care among children with ( = 517) and without ( = 517) intellectual and developmental disabilities. A negative binomial regression showed that mental health problems in multiple family members, self-injurious behaviour, and self-reported abuse/trauma was related to greater likelihood of provisional diagnoses of co-occurring psychiatric disorders in both a clinically referred sample and a sample with IDD. Implications for care-planning are discussed.
Topics: Adolescent; Humans; Child; Mental Health; Intellectual Disability; Family; Family Relations; Comorbidity; Developmental Disabilities
PubMed: 35584277
DOI: 10.1177/17446295221093967 -
Journal of Ultrasound in Medicine :... Feb 2024Primrose syndrome is a very rare congenital malformation. Symptoms of this disorder may appear during childhood, but the diagnosis is identified in adulthood in the...
Primrose syndrome is a very rare congenital malformation. Symptoms of this disorder may appear during childhood, but the diagnosis is identified in adulthood in the majority of cases. The prenatal diagnosis of Primrose syndrome is not developed in the literature. We present herein a case series of 3 cases with characteristic sonographic features. A dysmorphic metopic suture, downslanting palpebral fissures, a wide forehead, and agenesis of corpus callosum are the main signs. A missense mutation in ZBTB20 identified in whole exome sequencing can confirm the prenatal diagnosis of Primrose syndrome.
Topics: Pregnancy; Female; Humans; Abnormalities, Multiple; Intellectual Disability; Calcinosis; Prenatal Diagnosis; Agenesis of Corpus Callosum; Ear Diseases; Muscular Atrophy
PubMed: 37929614
DOI: 10.1002/jum.16354 -
Community Mental Health Journal Aug 2024Youth and young adults (YYA) with intellectual and developmental disabilities (IDD) have high rates of co-occurring mental health (MH) conditions. The time during...
Barriers to Mental Health Care Transition for Youth and Young Adults with Intellectual and Developmental Disabilities and Co-occurring Mental Health Conditions: Stakeholders' Perspectives.
Youth and young adults (YYA) with intellectual and developmental disabilities (IDD) have high rates of co-occurring mental health (MH) conditions. The time during transition from pediatric to adult health and mental health care can be a very challenging, with risk of loss of services leading to poor outcomes. This study aimed to explore barriers to transition from pediatric to adult health and mental health care and services for individuals with IDD and co-occurring MH conditions, by eliciting the view of stakeholders, including disability advocates. Qualitative analysis was conducted using grounded theory, and themes were coded based upon the social-ecological model (SEM). We generated themes into multiple levels: the individual level, the family level, the provider level, the systems of care level, and the societal level. Stakeholders expressed a critical need to improve coordination between systems, and to increase provider availability to care for YYA with IDD and co-occurring MH conditions.
Topics: Humans; Developmental Disabilities; Intellectual Disability; Adolescent; Young Adult; Male; Female; Transition to Adult Care; Mental Health Services; Mental Disorders; Qualitative Research; Health Services Accessibility; Adult; Stakeholder Participation
PubMed: 38619698
DOI: 10.1007/s10597-024-01262-x -
Journal of Applied Research in... Nov 2023Students with Intellectual Disability undergo frequent cognitive testing. Testing with this population is limited by insensitivity to relative strengths and weaknesses... (Review)
Review
BACKGROUND
Students with Intellectual Disability undergo frequent cognitive testing. Testing with this population is limited by insensitivity to relative strengths and weaknesses due to floor effects.
AIM
The study explored the utility of deviation scores via four case studies as a supplement to educational decision-making.
METHODS
Four students with Intellectual Disability completed cognitive testing. Deviation scores were calculated using age dependent raw z-score transformations to determine deviation from the standardization sample norms.
RESULTS
The application of deviation scores highlighted true relative strengths and weaknesses for students with Intellectual Disability rather than documenting previously known deficits. The four cases studies illustrated where deviation scores could, or could not, add value above and beyond traditional scoring.
DISCUSSION
Deviation scores can supplement placement and service decisions for students. Practical and psychometric considerations are reviewed.
CONCLUSION
The findings highlight the usefulness of deviation scores in providing meaningful information to school- and clinic-based practitioners.
Topics: Humans; Intellectual Disability; Neuropsychological Tests; Psychometrics; Schools; Students
PubMed: 37553958
DOI: 10.1111/jar.13137 -
Psychiatria Danubina Dec 2023The Convention on the Rights of Persons with Disabilities (CRPD) enshrines the right of persons with disabilities to enjoy the highest standard of health and access to...
The Convention on the Rights of Persons with Disabilities (CRPD) enshrines the right of persons with disabilities to enjoy the highest standard of health and access to health care without discrimination, but persons with disabilities have logistical and assistive support needs that must be known in order to build a health service offer that meets their needs and respects their rights in line with the CRPD. Examples of accessibility of medical care include the removal of an architectural barrier, the adaptation of a protocol, and ensuring information about care is delivered using easy to understand means of communications. An example of full inclusion and accessibility of the healthcare system for persons with intellectual disabilities is the DAMA (Disabled Advanced Medical Assistance), a project developed and tested at the Milan San Paolo Hospital. DAMA is an inclusive service provision methodology and offers a model that can follow, with a multidisciplinary approach, the person at every stage of the diagnostic and clinical pathway, and to support his or her family in dealing with the hospital. The diffusion of the DAMA model has demonstrated the flexibility of the model itself and its ability to adapt to hospitals with different characteristics and dimensions. The future is the institution of an organized network of all DAMA centres that share common clinical protocols and homogeneous archives. It will grant us the capability of collecting consistent epidemiological and clinical data, valuable for scientific researching and for training health personnel.
Topics: Humans; Male; Female; Disabled Persons; Delivery of Health Care; Intellectual Disability; Hospitals; Health Services Accessibility
PubMed: 37994066
DOI: No ID Found