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Journal of Personalized Medicine Jun 2024Limited knowledge is available about the association between autistic spectrum disorder (ASD) and precocious puberty. Our study examined the association between the two...
Limited knowledge is available about the association between autistic spectrum disorder (ASD) and precocious puberty. Our study examined the association between the two medical conditions and effect modification by sex and neuropsychiatric comorbidities in a nationwide population. To compare the risk of precocious puberty between ASD and non-ASD cases, we conducted a Cox regression analysis using ASD as the exposure and time to precocious puberty as the outcome. We adjusted for sex, attention-deficit/hyperactivity disorder (ADHD), tic disorder, obsessive-compulsive disorder (OCD), anxiety disorder, intellectual disability, and epilepsy. We performed a moderation analysis to examine the potential moderating effects of sex and comorbidities. Patients with ASD were prone to have precocious puberty, with an adjusted hazard ratio (aHR) of 1.80 (95% CI: 1.61-2.01). For effect modification, sex, specifically females, moderated the association between ASD and precocious puberty, with a relative excess risk due to interaction (RERI) of 7.35 (95% CI 4.90-9.80). No significant effect modification was found for any of the comorbidities within the scope of additive effect modification. We found that patients with ASD were prone to precocious puberty, regardless of sex or comorbid neuropsychiatric disorders. Girls with ASD are at a particularly higher risk of developing precocious puberty.
PubMed: 38929853
DOI: 10.3390/jpm14060632 -
Life (Basel, Switzerland) Jun 2024Costello syndrome (CS) is a rare genetic syndrome in which, due to the occurrence of a mutation in the HRAS gene on chromosome 11 that causes the manifestation, a set of...
Costello syndrome (CS) is a rare genetic syndrome in which, due to the occurrence of a mutation in the HRAS gene on chromosome 11 that causes the manifestation, a set of features such as a characteristic appearance, many congenital defects, intellectual disability and a genetic predisposition to cancer, friendly personality, and others can be identified. CS is very rare, with an incidence of ~1/300,000, but it belongs to one of the largest groups of congenital syndromes, called RASopathies, occurring with an incidence of 1/1000 people. Scoliosis and kyphosis, as well as other spinal defects, are common, in 63% and 58% of patients, respectively, and a study conducted among adult patients showed the presence of scoliosis in 75% of patients; there may be excessive lordosis of the lumbar section and inverted curvatures of the spine (lordosis in the thoracic section and kyphosis in the lumbar section). The aim of our study is to present a case report of treatment of severe scoliosis of 130 degrees in a 14-year-old patient with Costello syndrome, with coexisting Chiari II syndrome and syrinx in the absence of skeletal maturity. This patient underwent foramen magnum decompression 3 months before planned surgical correction for severe scoliosis. The patient was qualified for surgical treatment using magnetically controlled growing rods (MCGR). After spine surgery using MCGR, we gradually performed MCGR distraction over the next 2 years; we performed the final surgery, conversion to posterior spinal fusion (PSF) with simultaneous multi-level Ponte osteotomy, which gave a very good and satisfactory surgical result. In the perioperative period, two serious complications occurred: pneumothorax caused by central catheter and gastrointestinal bleeding due to previously undiagnosed gastrointestinal varices. This case shows that the treatment of severe and neglected scoliosis is complicated and requires special preparation and a surgical plan with other cooperating specialists. The scoliosis was corrected from 130 degrees to approximately 48 degrees, sagittal balance was significantly improved, and the surgical outcome was very pleasing, significantly improving quality of life and function for the patient.
PubMed: 38929723
DOI: 10.3390/life14060740 -
Children (Basel, Switzerland) Jun 2024Families of children with intellectual and developmental disabilities often face unique challenges that significantly impact their quality of life. Understanding the...
UNLABELLED
Families of children with intellectual and developmental disabilities often face unique challenges that significantly impact their quality of life. Understanding the predictors of family quality of life (FQOL) is crucial for developing effective support systems and interventions.
AIM
This study investigated the predictors that might influence the perception of families having a member with a disability regarding their quality of life (FQOL).
METHOD
The sample consisted of 320 family members from the Riyadh region of Saudi Arabia.
RESULTS
The overall results showed that participants' satisfaction with FQOL was at a moderate level. Further results indicated that variables associated with severity, type of disability, and the mother's age and education were significant predictors of the FQOL.
CONCLUSIONS
These results emphasize the importance of considering the variables that impact FQOL, such as the severity and type of disability, and mother's related variables, when directing support to families with a member with a disability. The recommendations and limitations of the study were discussed.
PubMed: 38929313
DOI: 10.3390/children11060734 -
Children (Basel, Switzerland) May 2024This study investigates the family well-being among Saudi Arabian families with youth who have an intellectual disability. A sample of 148 family members, including...
This study investigates the family well-being among Saudi Arabian families with youth who have an intellectual disability. A sample of 148 family members, including parents and other relatives, was surveyed on emotional well-being, family interactions, and parenting. This study aimed to explore the unique challenges and dynamics within these families, providing insights into how an intellectual disability in a youth affects the family unit. The research highlights a gap in understanding the specific impacts of intellectual disability on family life in the Saudi context. Key findings include variations in family quality of life perceptions among different family members, with fathers showing distinct levels of satisfaction. This study contributes to the development of culturally sensitive support strategies and policies, emphasizing the need for targeted interventions to enhance the well-being of these families in Saudi Arabia.
PubMed: 38929224
DOI: 10.3390/children11060644 -
International Journal of Environmental... May 2024While the literature has highlighted the immense challenges in caring for family members, it is still unclear what the needs of family carers of persons with...
Qualitative Protocol of Chinese Parents and Siblings Experiences of Managing Challenging Behaviours of Adult Persons with Intellectual Disability in Hong Kong and Northern China.
BACKGROUND
While the literature has highlighted the immense challenges in caring for family members, it is still unclear what the needs of family carers of persons with intellectual disability and challenging behaviours are and what has worked for them. This study aims to examine 60 parents' and siblings' experiences in managing the challenging behaviours of their adult family member with intellectual disability whilst living at home.
METHODS
A qualitative grounded theory approach using semi-structured interviews will be adopted. Purposive sampling will be used to recruit family carers who live with adult persons with intellectual disability and use one community service in Hong Kong. Three special schools for persons with intellectual disability from northern China will be approached.
RESULTS
This study will aim to provide an in-depth understanding of the experiences of family carers and compare the different circumstances they face when managing the challenging behaviours of their adult relatives with intellectual disability in their family home.
CONCLUSIONS
Although this study targets adults with intellectual disability, the findings will provide a point of reference for adolescents and younger persons who exhibit demanding and challenging behaviours and live with their families. Recommendations can guide the development of appropriate strategies to strengthen services for family carers.
Topics: Humans; Intellectual Disability; Hong Kong; China; Adult; Parents; Siblings; Caregivers; Qualitative Research; Male; Female; Problem Behavior; East Asian People
PubMed: 38928920
DOI: 10.3390/ijerph21060673 -
International Journal of Molecular... Jun 2024Sleep problems are a significant phenotype in children with fragile X syndrome. Our prior work assessed sleep-wake cycles in male mice and wild type (WT) littermate...
Sleep problems are a significant phenotype in children with fragile X syndrome. Our prior work assessed sleep-wake cycles in male mice and wild type (WT) littermate controls in response to ketogenic diet therapy where mice were treated from weaning (postnatal day 18) through study completion (5-6 months of age). A potentially confounding issue with commencing treatment during an active period of growth is the significant reduction in weight gain in response to the ketogenic diet. The aim here was to employ sleep electroencephalography (EEG) to assess sleep-wake cycles in mice in response to the genotype and a ketogenic diet, with treatment starting at postnatal day 95. EEG results were compared with prior sleep outcomes to determine if the later intervention was efficacious, as well as with published rest-activity patterns to determine if actigraphy is a viable surrogate for sleep EEG. The data replicated findings that mice exhibit sleep-wake patterns similar to wild type littermates during the dark cycle when maintained on a control purified-ingredient diet but revealed a genotype-specific difference during hours 4-6 of the light cycle of the increased wake (decreased sleep and NREM) state in mice. Treatment with a high-fat, low-carbohydrate ketogenic diet increased the percentage of NREM sleep in both wild type and mice during the dark cycle. Differences in sleep microstructure (length of wake bouts) supported the altered sleep states in response to ketogenic diet. Commencing ketogenic diet treatment in adulthood resulted in a 15% (WT) and 8.6% () decrease in body weight after 28 days of treatment, but not the severe reduction in body weight associated with starting treatment at weaning. We conclude that the lack of evidence for improved sleep during the light cycle (mouse sleep time) in mice in response to ketogenic diet therapy in two studies suggests that ketogenic diet may not be beneficial in treating sleep problems associated with fragile X and that actigraphy is not a reliable surrogate for sleep EEG in mice.
Topics: Animals; Diet, Ketogenic; Mice; Fragile X Syndrome; Mice, Inbred C57BL; Male; Sleep; Fragile X Mental Retardation Protein; Mice, Knockout; Electroencephalography; Disease Models, Animal
PubMed: 38928388
DOI: 10.3390/ijms25126679 -
Genes Jun 2024While balanced reciprocal translocations are relatively common, they often remain clinically silent unless they lead to the disruption of functional genes. In this...
While balanced reciprocal translocations are relatively common, they often remain clinically silent unless they lead to the disruption of functional genes. In this study, we present the case of a boy exhibiting developmental delay and mild intellectual disability. Initial karyotyping revealed a translocation t(5;6)(q13;q23) between chromosomes 5 and 6 with limited resolution. Optical genome mapping (OGM) enabled a more precise depiction of the breakpoint regions involved in the reciprocal translocation. While the breakpoint region on chromosome 6 did not encompass any known gene, OGM revealed the disruption of the (Ras protein-specific guanine nucleotide releasing factor 2) gene on chromosome 5, implicating as a potential candidate gene contributing to the observed developmental delay in the patient. Variations in have so far not been reported in developmental delay, but research on the gene underscores its significance in various aspects of neurodevelopment, including synaptic plasticity, signaling pathways, and behavioral responses. This study highlights the utility of OGM in identifying breakpoint regions, providing possible insights into the understanding of neurodevelopmental disorders. It also helps affected individuals in gaining more knowledge about potential causes of their conditions.
Topics: Humans; Translocation, Genetic; Male; Developmental Disabilities; ras Guanine Nucleotide Exchange Factors; Chromosome Mapping; Chromosomes, Human, Pair 5; Intellectual Disability
PubMed: 38927744
DOI: 10.3390/genes15060809 -
Genes Jun 2024Mutations in the gene (S phase Cyclin A-Associated Protein residing in the Endoplasmic Reticulum) have recently been associated with retinitis pigmentosa (RP) and...
Mutations in the gene (S phase Cyclin A-Associated Protein residing in the Endoplasmic Reticulum) have recently been associated with retinitis pigmentosa (RP) and intellectual disability (ID). In 2011, a possible involvement of in human diseases was discovered for the first time due to the identification of a homozygous mutation causing ID in an Iranian family. Later, five studies were published in 2019 that described patients with autosomal recessive syndromic retinitis pigmentosa (arRP) accompanied by ID and attention-deficit/hyperactivity disorder (ADHD). This present study describes three patients from an Arab consanguineous family in Israel with similar clinical features of the SCAPER syndrome. In addition, new manifestations of ocular symptoms, nystagmus, glaucoma, and elevator palsy, were observed. Genetic testing of the patients and both parents via whole-exome sequencing revealed the homozygous mutation c.2023-2A>G in . Phenotypic and genotypic descriptions for all available cases described in the literature including our current three cases (37 cases) were carried out, in addition to a bioinformatics analysis for all the genetic variants that was undertaken. Our study confirms and extends the clinical manifestations of SCAPER-related disorders.
Topics: Adolescent; Adult; Female; Humans; Carrier Proteins; Computational Biology; Consanguinity; Exome Sequencing; Genes, Recessive; Homozygote; Intellectual Disability; Intercellular Signaling Peptides and Proteins; Mutation; Pedigree; Phenotype; Retinitis Pigmentosa
PubMed: 38927727
DOI: 10.3390/genes15060791 -
Genes Jun 2024This study delves into the diagnostic yield of whole-exome sequencing (WES) in pediatric patients presenting with developmental delay/intellectual disability (DD/ID),...
This study delves into the diagnostic yield of whole-exome sequencing (WES) in pediatric patients presenting with developmental delay/intellectual disability (DD/ID), while also exploring the utility of Reverse Phenotyping (RP) in refining diagnoses. A cohort of 100 pediatric patients underwent WES, yielding a diagnosis in 66% of cases. Notably, RP played a significant role in cases with negative prior genetic testing, underscoring its significance in complex diagnostic scenarios. The study revealed a spectrum of genetic conditions contributing to DD/ID, illustrating the heterogeneity of etiological factors. Despite challenges, WES demonstrated effectiveness, particularly in cases with metabolic abnormalities. Reverse phenotyping was indicated in half of the patients with positive WES findings. Neural network models exhibited moderate-to-exceptional predictive abilities for aiding in patient selection for WES and RP. These findings emphasize the importance of employing comprehensive genetic approaches and RP in unraveling the genetic underpinnings of DD/ID, thereby facilitating personalized management and genetic counseling for affected individuals and families. This research contributes insights into the genetic landscape of DD/ID, enhancing our understanding and guiding clinical practice in this particular field of clinical genetics.
Topics: Humans; Exome Sequencing; Developmental Disabilities; Child; Male; Intellectual Disability; Female; Child, Preschool; Phenotype; Infant; Adolescent; Genetic Testing
PubMed: 38927725
DOI: 10.3390/genes15060789 -
Genes May 2024Fragile X syndrome (FXS) is a genetic disorder caused by a mutation in the fragile X messenger ribonucleoprotein 1 () gene and known to be a leading cause of inherited... (Review)
Review
Fragile X syndrome (FXS) is a genetic disorder caused by a mutation in the fragile X messenger ribonucleoprotein 1 () gene and known to be a leading cause of inherited intellectual disability globally. It results in a range of intellectual, developmental, and behavioral problems. Fragile X premutation-associated conditions (FXPAC), caused by a smaller CGG expansion (55 to 200 CGG repeats) in the gene, are linked to other conditions that increase morbidity and mortality for affected persons. Limited research has been conducted on the burden, characteristics, diagnosis, and management of these conditions in Africa. This comprehensive review provides an overview of the current literature on FXS and FXPAC in Africa. The issues addressed include epidemiology, clinical features, discrimination against affected persons, limited awareness and research, and poor access to resources, including genetic services and treatment programs. This paper provides an in-depth analysis of the existing worldwide data for the diagnosis and treatment of fragile X disorders. This review will improve the understanding of FXS and FXPAC in Africa by incorporating existing knowledge, identifying research gaps, and potential topics for future research to enhance the well-being of individuals and families affected by FXS and FXPAC.
Topics: Fragile X Syndrome; Humans; Fragile X Mental Retardation Protein; Africa; Mutation; Trinucleotide Repeat Expansion
PubMed: 38927619
DOI: 10.3390/genes15060683