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Developmental Medicine and Child... Feb 2022To summarize developmental delay among infants and toddlers with sickle cell disease (SCD).
AIM
To summarize developmental delay among infants and toddlers with sickle cell disease (SCD).
METHOD
This systematic review included studies that reported developmental outcomes of children with SCD between 0 months and 48 months of age and followed standards set forth by the Preferred Reporting Items for Systematic Reviews and Meta-Analyses (PRISMA) guidelines.
RESULTS
Ten studies were included, describing 596 unique developmental assessments. The rate of developmental delay ranged from 17.5% to 50% and increased with age. Cognition was the only domain included in all studies and the most frequently identified delay. One study reported that more severe SCD genotypes predicted worse development, while five studies reported no difference in rates of developmental delay across genotypes.
INTERPRETATION
These findings emphasize the need for standardized screening to identify children with SCD at risk of delay at a young age to facilitate appropriate referrals for therapeutic intervention. Frequent and comprehensive developmental screening is necessary among all SCD genotypes.
Topics: Anemia, Sickle Cell; Child, Preschool; Developmental Disabilities; Humans; Infant; Infant, Newborn
PubMed: 34535892
DOI: 10.1111/dmcn.15048 -
Journal of Applied Research in... May 2022Women with intellectual and developmental disabilities face poorer reproductive and pregnancy outcomes partially due to health care inequity. Our objective was to... (Review)
Review
BACKGROUND
Women with intellectual and developmental disabilities face poorer reproductive and pregnancy outcomes partially due to health care inequity. Our objective was to conduct a scoping review of reproductive and pregnancy related health care among women with intellectual and developmental disabilities.
METHODS
We systematically reviewed three databases for keywords pertaining to pregnancy, reproductive health, and intellectual and developmental disabilities. Two reviewers screened abstracts and extracted full text. We synthesised included papers, identifying common themes.
RESULTS
Thirty-six papers met review criteria. Women with intellectual and developmental disabilities had lower fertility rates and were less likely to receive adequate sexual education compared to peers. While most women received prenatal care, uptake was lower and received later than women without intellectual and developmental disabilities.
CONCLUSIONS
Pregnancy-related health care is often lacking for women with intellectual and developmental disabilities. There are gaps inhibiting our understanding which prevents action to reduce health disparities.
Topics: Child; Delivery of Health Care; Developmental Disabilities; Female; Humans; Intellectual Disability; Male; Pregnancy; Prenatal Care; Sexual Behavior
PubMed: 35064736
DOI: 10.1111/jar.12977 -
Journal of the American Academy of... May 2023To summarize the current state of the literature regarding emotion dysregulation (ED) in syndromic intellectual disabilities (S-IDs) in 6 of the most common forms of... (Review)
Review
OBJECTIVE
To summarize the current state of the literature regarding emotion dysregulation (ED) in syndromic intellectual disabilities (S-IDs) in 6 of the most common forms of S-IDs-Down syndrome, fragile X syndrome (FXS), tuberous sclerosis complex, Williams syndrome, Prader-Willi syndrome, and Angelman syndrome-and to determine future research directions for identification and treatment of ED.
METHOD
PubMed bibliographic database was searched from date of inception to May 2021. PRISMA 2020 guidelines were followed with the flowchart, table of included studies, list of excluded studies, and checklist provided. Filters applied included human research and English. Only original research articles were included in the final set, but review articles were used to identify secondary citations of primary studies. All articles were reviewed for appropriateness by 2 authors and summarized. Inclusion criteria were met by 145 articles (Down syndrome = 29, FXS = 55, tuberous sclerosis complex = 11, Williams syndrome = 18, Prader-Willi syndrome = 24, Angelman syndrome = 8).
RESULTS
Each syndrome review was summarized separately and further subdivided into articles related to underlying neurobiology, behaviors associated with ED, assessment, and targeted intervention. FXS had the most thorough research base, followed by Down syndrome and Prader-Willi syndrome, with the other syndromes having more limited available research. Very limited research was available regarding intervention for all disorders except FXS.
CONCLUSION
Core underlying characteristics of S-IDs appear to place youth at higher risk for ED, but further research is needed to better assess and treat ED in S-IDs. Future studies should have a standard assessment measure of ED, such as the Emotion Dysregulation Inventory, and explore adapting established curricula for ED from the neurotypical and autism spectrum disorder fields.
Topics: Child; Adolescent; Humans; Prader-Willi Syndrome; Angelman Syndrome; Down Syndrome; Autism Spectrum Disorder; Developmental Disabilities; Tuberous Sclerosis; Intellectual Disability; Fragile X Syndrome; Williams Syndrome; Emotions
PubMed: 36007813
DOI: 10.1016/j.jaac.2022.06.020 -
Neurological Sciences : Official... Dec 2021In anticipation of the "Chiari and Syringomyelia Consensus Conference" held in Milan in 2019, we performed a systematic literature review on the management of Chiari... (Review)
Review
In anticipation of the "Chiari and Syringomyelia Consensus Conference" held in Milan in 2019, we performed a systematic literature review on the management of Chiari malformation type 1 (CM1) and syringomyelia (Syr) in children.We aimed to summarize the available evidence and identify areas where consensus has not been reached and further research is needed.In accordance with PRISMA guidelines, we formulated seven questions in Patients-Interventions-Comparators-Outcomes (PICO) format. Six PICOs concerned CM1 children with/without additional structural anomalies (Syr, craniosynostosis, hydrocephalus, tethered cord, and cranio-vertebral junction anomalies), and one PICO Syr without CM1. We searched Medline, Embase, Cochrane, and NICE databases from January 1, 1999, to May 29, 2019. Cohort studies, controlled and randomized clinical trials (CCTs, RCTs), and systematic reviews were included, all pertinent only to patients ≤ 18 years of age.For CM1, 3787 records were found, 460 full texts were assessed and 49 studies (46 cohort studies, one RCT, and two systematic reviews) were finally included. For Syr, 376 records were found, 59 full texts were assessed, and five studies (one RCT and four cohort studies) were included. Data on each PICO were synthetized narratively due to heterogeneity in the inclusion criteria, outcome measures, and length of follow-up of the included studies.Despite decades of experience on CM1 and Syr management in children, the available evidence remains limited. Specifically, there is an urgent need for collaborative initiatives focusing on the adoption of shared inclusion criteria and outcome measures, as well as rigorous prospective designs, particularly RCTs.
Topics: Arnold-Chiari Malformation; Child; Humans; Neural Tube Defects; Prospective Studies; Syringomyelia
PubMed: 34591209
DOI: 10.1007/s10072-021-05565-9 -
International Journal of Molecular... Oct 2022The CTNNB1 Syndrome is a rare neurodevelopmental disorder associated with developmental delay, intellectual disability, and delayed or absent speech. The aim of the... (Review)
Review
The CTNNB1 Syndrome is a rare neurodevelopmental disorder associated with developmental delay, intellectual disability, and delayed or absent speech. The aim of the present study is to systematically review the available data on the prevalence of clinical manifestations and to evaluate the correlation between phenotype and genotype in published cases of patients with CTNNB1 Syndrome. Studies were identified by systematic searches of four major databases. Information was collected on patients' genetic mutations, prenatal and neonatal problems, head circumference, muscle tone, EEG and MRI results, dysmorphic features, eye abnormalities, early development, language and comprehension, behavioral characteristics, and additional clinical problems. In addition, the mutations were classified into five groups according to the severity of symptoms. The study showed wide genotypic and phenotypic variability in patients with CTNNB1 Syndrome. The most common moderate-severe phenotype manifested in facial dysmorphisms, microcephaly, various motor disabilities, language and cognitive impairments, and behavioral abnormalities (e.g., autistic-like or aggressive behavior). Nonsense and missense mutations occurring in exons 14 and 15 were classified in the normal clinical outcome category/group because they had presented an otherwise normal phenotype, except for eye abnormalities. A milder phenotype was also observed with missense and nonsense mutations in exon 13. The autosomal dominant CTNNB1 Syndrome encompasses a wide spectrum of clinical features, ranging from normal to severe. While mutations cannot be more generally categorized by location, it is generally observed that the C-terminal protein region (exons 13, 14, 15) correlates with a milder phenotype.
Topics: Pregnancy; Female; Humans; Codon, Nonsense; Phenotype; Intellectual Disability; Syndrome; Genotype; Mutation; Eye Abnormalities; beta Catenin
PubMed: 36293418
DOI: 10.3390/ijms232012564 -
Prevention Science : the Official... May 2024Exposure to certain chemicals prenatally and in childhood can impact development and may increase risk for attention-deficit/hyperactivity disorder (ADHD). Leveraging a... (Meta-Analysis)
Meta-Analysis Review
Exposure to certain chemicals prenatally and in childhood can impact development and may increase risk for attention-deficit/hyperactivity disorder (ADHD). Leveraging a larger set of literature searches conducted to synthesize results from longitudinal studies of potentially modifiable risk factors for childhood ADHD, we present meta-analytic results from 66 studies that examined the associations between early chemical exposures and later ADHD diagnosis or symptoms. Studies were eligible for inclusion if the chemical exposure occurred at least 6 months prior to measurement of ADHD diagnosis or symptomatology. Included papers were published between 1975 and 2019 on exposure to anesthetics (n = 5), cadmium (n = 3), hexachlorobenzene (n = 4), lead (n = 22), mercury (n = 12), organophosphates (n = 7), and polychlorinated biphenyls (n = 13). Analyses are presented for each chemical exposure by type of ADHD outcome reported (categorical vs. continuous), type of ADHD measurement (overall measures of ADHD, ADHD symptoms only, ADHD diagnosis only, inattention only, hyperactivity/impulsivity only), and timing of exposure (prenatal vs. childhood vs. cumulative), whenever at least 3 relevant effect sizes were available. Childhood lead exposure was positively associated with ADHD diagnosis and symptoms in all analyses except for the prenatal analyses (odds ratios (ORs) ranging from 1.60 to 2.62, correlation coefficients (CCs) ranging from 0.14 to 0.16). Other statistically significant associations were limited to organophosphates (CC = 0.11, 95% confidence interval (CI): 0.03-0.19 for continuous measures of ADHD outcomes overall), polychlorinated biphenyls (CC = 0.08, 95% CI: 0.02-0.14 for continuous measures of inattention as the outcome), and both prenatal and childhood mercury exposure (CC = 0.02, 95% CI: 0.00-0.04 for continuous measures of ADHD outcomes overall for either exposure window). Our findings provide further support for negative impacts of prenatal and/or childhood exposure to certain chemicals and raise the possibility that primary prevention and targeted screening could prevent or mitigate ADHD symptomatology. Furthermore, these findings support the need for regular review of regulations as our scientific understanding of the risks posed by these chemicals evolves.
Topics: Attention Deficit Disorder with Hyperactivity; Humans; Child; Environmental Exposure; Female; Prenatal Exposure Delayed Effects; Pregnancy
PubMed: 38108946
DOI: 10.1007/s11121-023-01601-6 -
Research in Developmental Disabilities Oct 2022Individuals with developmental coordination disorder (DCD) and low motor competence (LMC) may be at increased risk of low bone health due to their lifetime physical... (Review)
Review
AIMS
Individuals with developmental coordination disorder (DCD) and low motor competence (LMC) may be at increased risk of low bone health due to their lifetime physical activity patterns. Impaired bone health increases an individual's risk of osteoporosis and fracture; therefore, it is necessary to determine whether a bone health detriment is present in this group. Accordingly, this systematic review explores the association between DCD/LMC and bone health.
METHODS AND PROCEDURES
Studies were included with assessment of bone health in a DCD/LMC population. Study bias was assessed using the JBI critical appraisal checklist. Due to heterogeneity, meta-analysis was not possible and narrative synthesis was performed with effect size and direction assessed via harvest plots.
OUTCOMES AND RESULTS
A total of 16 (15 paediatric/adolescent) studies were included. Deficits in bone measures were reported for the DCD/LMC group and were more frequent in weight-bearing sites. Critical appraisal indicated very low confidence in the results, with issues relating to indirectness and imprecision relating to comorbidities.
CONCLUSIONS AND IMPLICATIONS
Individuals with DCD or LMC are at increased risk of bone health deficits. Bone impairment locations indicate insufficient loading via physical activity as a potential cause of bone deficits. Results indicate a potential for earlier osteoporosis onset.
Topics: Adolescent; Bone Density; Child; Exercise; Humans; Motor Skills Disorders; Osteoporosis; Weight-Bearing
PubMed: 35970085
DOI: 10.1016/j.ridd.2022.104324 -
Journal of Applied Research in... Mar 2022The abuse of adults with intellectual and developmental disabilities in care services seems to be relatively common, although there are anecdotal suggestions that abuse... (Review)
Review
BACKGROUND
The abuse of adults with intellectual and developmental disabilities in care services seems to be relatively common, although there are anecdotal suggestions that abuse may be predictable and preventable.
METHOD
Evidence related to how abuse is detected and prevented within services was reviewed. Database and ancestry searches were conducted, and the methodological quality of studies assessed using the mixed methods appraisal tool.
RESULTS
A total of 48 articles were reviewed. The characteristics of victims, perpetrators and organisations were summarised. Several recommendations for how abuse can be detected and prevented were made, including better staff training, supervision and monitoring of services. The quality of studies limits the reliability and validity of research findings.
CONCLUSION
Risk and protective factors related to the abuse of adults with intellectual and other developmental disabilities remain largely consistent. Further research is required to support the implementation of recommendations aimed to detect and prevent abuse.
Topics: Adult; Child; Developmental Disabilities; Humans; Intellectual Disability; Reproducibility of Results
PubMed: 34697867
DOI: 10.1111/jar.12954 -
BMC Oral Health Oct 2023People with Intellectual and developmental disabilities (IDDs) experience oral health inequality due to myriad of risk factors and complex needs. Sensory processing... (Meta-Analysis)
Meta-Analysis
Effectiveness of sensory adaptive dental environments to reduce psychophysiology responses of dental anxiety and support positive behaviours in children and young adults with intellectual and developmental disabilities: a systematic review and meta-analyses.
BACKGROUND
People with Intellectual and developmental disabilities (IDDs) experience oral health inequality due to myriad of risk factors and complex needs. Sensory processing difficulties, maladaptive behaviours and dental anxiety contribute to difficulties in receiving preventive and routine dental treatments. This study aimed to systematically review the evidence on the effectiveness of sensory adaptive dental environments (SADE) for children and young adults (up to the ages 24 years) with IDD to address cooperation and dental anxiety.
METHODS
This review was reported according to The Preferred Reporting Items for Systematic Reviews and Meta-Analysis (PRISMA) guidelines. MEDLINE (Ovid), The Cochrane Library, Embase, Google Scholar, Web of Science and OT Seeker were searched using appropriate terms to identify Randomised Control Trails (RCTs) that matched inclusion criteria. Screening was conducted by two reviewers after de-duplication based on titles and abstracts followed by full text retrieval. Quality of the included studies was assessed using Cochrane Risk of Bias (ROB)-2 for crossover trials and data extracted by two reviewers. The details of the interventions and effectiveness were compared and discussed narratively, and comparable outcomes were included to meta-analyses using R software.
RESULTS
A total of 622 articles were identified and five articles met eligibility for inclusion. Three studies used multi-sensory adaptations and one used single sensory adaptation of music. Narrative synthesis showed some evidence of SADE reducing magnitude and duration, although, questionable for reducing the number of maladaptive behaviours. Two studies demonstrated conflicting evidence of the effect of SADE on cooperation. Three studies demonstrated significant positive impact of SADE on psychophysiological outcomes. Despite an overall tendency to favour SADE, no statistically significant difference of maladaptive behaviours was found between SADE and regular dental environment (RDE) (Standardised mean change (SMC) = 0.51; 95% Confidence Interval (CI) -0.20 to 1.22; p = 0.161). SADE was superior to RDE (SMC -0.66; 95% CI -1.01 to -0.30; p = < 0.001) in reducing psychophysiological responses of dental anxiety.
CONCLUSION
Current evidence suggests that adapting visual, tactile, and auditory aspects of the dental environment in a single or multi-sensory approach demonstrates small positive effects on psychophysiological responses and maladaptive behaviours of dental anxiety for people with IDD.
TRIAL REGISTRATION
The title of this review was registered with PROSPERO (CRD42022322083).
Topics: Child; Humans; Young Adult; Dental Anxiety; Developmental Disabilities; Oral Health; Psychophysiology; Risk Factors
PubMed: 37858057
DOI: 10.1186/s12903-023-03445-6 -
Occupational Therapy International 2021Original research articles regarding visual motor integration skills in children with developmental disabilities and the impact of occupational therapy were identified,... (Review)
Review
Original research articles regarding visual motor integration skills in children with developmental disabilities and the impact of occupational therapy were identified, appraised, and synthesized. Twenty-four articles were chosen for this review. Themes were noted during the critique of articles. Three themes emerged: "age," "gender," and "diagnosis." Regarding the impact on visual motor integration, there was strong evidence for age, moderate evidence for gender, and strong evidence for diagnosis. Future research investigating visual motor integration in children should control for age and diagnosis.
Topics: Child; Developmental Disabilities; Humans; Motor Skills; Motor Skills Disorders; Occupational Therapy; Psychomotor Performance
PubMed: 34381323
DOI: 10.1155/2021/1801196