Impairments In Motor Development Research Articles

Identification of biallelic mutations in MCM3AP and comprehensive literature analysis.

Minichromosome maintenance complex component 3 associated protein (MCM3AP) is a gene in which mutations can result in autosomal recessive peripheral neuropathy with or without impaired intellectual development. The MCM3AP genotype-phenotype correlation and prognosis remain unclear. The aim of this study was to explore the genotype-phenotype correlations pertaining to MCM3AP. Whole-exome sequencing (WES) combined with copy number variation sequencing (CNV-seq) were performed on the genomic DNA isolated from a Chinese family, and Sanger sequencing, quantitative PCR and cDNA analyses were performed to examine the mutations. The retrospective study was conducted on 28 individuals with biallelic MCM3AP mutation-related diseases, including features such as mutations, motor development impairment, intellectual disability, weakness/atrophy, and cerebral magnetic resonance imaging abnormalities. Sequencing identified novel compound heterozygous mutations in MCM3AP, namely, a paternal variant c.1_5426del (loss of exons 1-25) and a maternal splicing variant c.1858 + 3A>G. Functional studies revealed that the variant c.1858 + 3A>G resulted in the heterozygous deletion of exon 5, thereby affecting splicing functionality. Furthermore, the compound heterozygous mutation may affect the functionality of the protein domain. Retrospective analysis revealed different genotype-phenotype correlations for the pathogenic variants in biallelic MCM3AP: all individuals (100%) with mutations outside the Sac3 domain exhibited early-onset symptoms, motor developmental delays, and cognitive abnormalities, conversely, the proportions of individuals carrying mutations within the domain were 26.7% (motor delays) and 46.7% (cognitive abnormalities). Our findings further expand the genetic mutation spectrum of biallelic MCM3AP and highlight the genotype-phenotype associations. Additionally, we elaborate on the importance of rehabilitation intervention.

The Benefits of Combining Bobath and Vojta Therapies in Infants with Motor Development Impairment-A Pilot Study.

Background: In infants presenting with motor development impairment, early kinesiotherapeutic interventions aim to normalise the pattern of movements and improve recovery. By applying Bobath and Vojta methods, we aimed to identify a combined approach regarding motor deficit in infants with neurological disabilities. Methods: We designed a prospective interventional study on 108 infants with motor developmental delay and applied Bobath, Vojta, or combined Bobath and Vojta therapy in three equal groups. Results: In the combined Bobath and Vojta group, complete motor recovery was achieved for 50% of the participants, with full recovery after six months, whereas in Bobath- or Vojta-only therapy groups, the total recovery for all participants was achieved at seven months. Regarding infants with muscular hypertonia, Bobath therapy initiation demonstrated complete recovery in 5 months in more than 50% of the cases, while for Vojta this was achieved in only 33.57% of the cases. Conclusions: The comparative evaluation conducted by analysing the data regarding the application of the Bobath and Vojta methods showed that combining these two therapies results in a shorter motor deficit recovery time than if a single therapy is applied. These findings have important implications for the selection of rehabilitation therapies in infants with neurological motor development issues.

Hubungan Status Sosial Ekonomi dengan Kejadian Stunting pada Balita Usia 12-60 Bulan Di Puskesmas Kaliwates

Stunting is a condition of impaired growth and development in children that can result in morbidity, mortality, and motor development impairment. The occurrence of stunting is often associated with malnutrition. Jember is a regency with the highest prevalence of stunting in East Java in 2020. Socioeconomic status, such as parental education level and occupation, can influence access to adequate nutrition and healthcare, which in turn contribute to the risk of stunting. The objective of this study was to determine the relationship between socioeconomic status and the occurrence of stunting among children aged 12-60 months in Kaliwates Community Health Center. This study employed a quantitative approach with an analytical observational design and a cross-sectional study design. The study population consisted of 580 children. The sampling technique used in this study was Proportionate Stratified Random Sampling, calculated using the Issac and Michael formula, resulting in a sample of 58 respondents who met the inclusion criteria. The data were analyzed using univariate and bivariate analyses with statistical tests using Chi-Square. The Chi-Square test results indicated a significant relationship between fathers' occupation (p = 0.003), mothers' occupation (p = 0.000), fathers' education (p = 0.001), mothers' education (p = 0.000), and the occurrence of stunting among children aged 12-60 months in Kaliwates Community Health Center. To prevent and address the occurrence of stunting among children in Kaliwates Community Health Center, it is important to provide balanced nutrition education, improve access to nutritious food, regularly monitor children's growth and development, involve the community, strengthen parental roles, and conduct regular program monitoring and evaluation.

The relationship between motor development and social adaptability in autism spectrum disorder.

Autism spectrum disorders(ASD)describe a wide range of pervasive developmental disorders by core symptoms including deficits in social communication and interaction, as well as restricted, repetitive, and stereotyped behaviors. At the same time, some children with autism are accompanied by motor development disorder. Many studies have confirmed that the motor development impairment was significantly associated with the social problems associated with ASD. Thus, this study aimed to investigate how motor development affects social adaptability in children with ASD to provide references for early ASD intervention. The case data of children's health care were selected in 2021. Motor development was assessed with the Developmental Behavior Assessment Scale for Children Aged 0-6 years. Social adaptability was measured using the Japanese S-M Social Living Skills Scale. Statistical analysis was conducted with SPSS 22.0 software package. Data were analyzed using independent samples t-test and logistic regression. A total of 198 cases comprising 140 boys (70.71%) and 58 girls (29.29%) were included, and the average age of participants was 3.40 ± 1.06 years, with 3.33 ± 1.18 years in the typical development (TD) children group and 3.46 ± 0.95 years in the ASD group. The social adaptability of 107 ASD children was abnormal, including 37 children (34.5%) with marginal, 48 children (44.9%) with mild, 17 children (15.9%) with moderate, and 5 children (4.7%) with severe. In 91 TD children, there were 51 children (56.04%) with normal social adaptability, 38 children (41.75%) with marginal, 2 children (2.19%) with mild, and nobody with moderate or severe. The ASD children had lower levels of developmental behavior than those of TD children, and the difference was statistically significant. The results of logistic regression showed that fine motor increased by 1 unit, and the OR value of one level decreased in social adaptability was 2.24 times (OR = e0.807 = 2.24). In children with ASD, not only motor development is delayed, but also social adaptability is affected, and fine motor skill may be important for social adaptability.

Terapinės hipotermijos reikšmė išnešiotų naujagimių, patyrusių hipoksiją arba asfiksiją gimstant, atokiosioms baigtims

Tyrimo tikslas. Nustatyti terapinės hipotermijos (TH) reikšmę naujagimių, patyrusių hipoksiją arba asfiksiją gimstant, atokiosioms baigtims. Tyrimo metodai. Atlikta sisteminė literatūros apžvalga naudojantis „PubMed“ (MEDLINE) ir ,,Cochrane“ bibliografinėmis medicininėmis duomenų bazėmis. Atrinkti straipsniai, nagrinėjantys terapinės hipotermijos dažnį bei įtaką išnešiotų naujagimių ankstyvosioms ir vėlyvosioms baigtims, kurie gimdami patyrė hipoksiją arba asfiksiją. Paieškai naudotos reikšminių žodžių kombinacijos anglų kalba: therapeutic hypothermia in neonates, neonatal cooling, hypoxic-ischemic encephalopathy and cooling, cooling asphyxiated newborns. Taip pat naudotas filtras: anglų kalba, straipsniai, ne senesni nei penkerių metų. Rezultatai. Įvykdžius sisteminę paiešką, į analizę įtraukti septyni viso teksto moksliniai straipsniai. Iš viso bendra tiriamųjų imtis buvo 2014 naujagimių. Į sisteminę analizę įtraukti straipsniai iš šių šalių: JAV, Jungtinės Karalystės, Nyderlandų, Bosnijos ir Hercegovinos. Visuose tyrimuose analizuota TH reikšmė naujagimių, patyrusių perinatalinę asfiksiją (PA), atokiosioms baigtims. Taip pat visi tyrėjai aprašė, jog TH buvo taikyta visiems gaivintiems naujagimiams, atitikusiems atrankos kriterijus pagal protokolus. Išvados. Esant TH atrankos kriterijams, visiems naujagimiams, patyrusiems asfiksiją gimstant, skiriama TH. Ankstyvosios atokiosios baigtys naujagimių, kuriems buvo taikyta TH: mirtis, hipoksinė išeminė encefalopatija (HIE), traukuliai. Nuo 10,8 iki 32 proc. tiriamųjų mirė stacionare. Lengva HIE buvo nustatyta nuo 14,3 iki 16,9 proc. tiriamųjų, vidutinio sunkumo – nuo 52,1 iki 88 proc. tiriamųjų, sunki – nuo 12,1 iki 28,6 proc. tiriamųjų. Traukulių dažnis – nuo 17,9 iki 75,9 proc. atvejų. Ankstyvųjų baigčių dažnis, netaikant TH, reikšmingai nesiskyrė. Vėlyvosios atokiosios baigtys naujagimių, kuriems buvo taikyta TH: negalia, motorinės raidos sutrikimai, cerebrinis paralyžius (CP), klausos, regos, kalbos ir intelekto sutrikimai. Lengva negalia buvo nustatyta nuo 10 iki 21 proc., vidutinio sunkumo – nuo 1,3 iki 10 proc., sunki – nuo 11,5 iki 25 proc. atvejų. Motorinės raidos sutrikimų arba CP dažnis – nuo 11,9 iki 68,9 proc. Lengvų klausos sutrikimų dažnis – nuo 1 iki 98,6 proc., lengvų regos sutrikimų dažnis – nuo 4 iki 85,3 proc., lengvų kalbos sutrikimų dažnis – nuo 21 iki 74,3 proc. Vėlyvųjų baigčių dažnis, netaikant TH, reikšmingai nesiskyrė. Tik lengvų kalbos sutrikimų dažnis buvo reikšmingai mažesnis, o intelekto koeficientas buvo didesnis taikant TH.

Drums-Alive Intervention Effect on the Motor and Functional Skills in Youth with Intellectual Disabilities and Autism Spectrum Disorder: A Pilot Study

Intellectual disability (ID) and autism spectrum disorder (ASD) are associated with impairments in motor development, attention, and behavior. Physical activity (PA) has been demonstrated to improve these conditions. However, many individuals with ID and ASD are not motivated to persist at performing PA tasks for an extended period of time. Therefore, there is a great need to find forms of PA that could motivate individuals to stay at performing PA. One such form of PA is Drums-Alive, which involves movement, drumming, and music to increase enjoyment motivation. While it is speculated the Drums-Alive could have an effect on motor skills, attention, and behavior, this concept has not been examined in persons with ID and ASD. Therefore, this study aimed to explore the effect of Drums-Alive on motor skills, attention, and behavior for individuals with ID and ASD. Nine adolescents diagnosed with ID or ASD participated in an eight-week Drums-Alive program intervention. Motor skills, attention, and behavior were measured before and after the intervention. Paired-samples t-tests were used, and the statistical significance was established at p ≤ 0.05. The results suggested no significant differences in motor skills, attention, and behavior before and after the Drums-Alive intervention (p > 0.05). Though no statistical significance was found, improvements were observed from the pretest and posttest means, and all participants expressed their enjoyment of participating in the Drum-Alive program. More extended intervention and more participants will be needed in future research.

Analysis of the motor performance of children with ASD and its relationship with personal and contextual variables

Background A high number of individuals with Autism Spectrum Disorder (ASD) present motor deficits. The objectives of this study were (1) to evaluate the motor performance of children with ASD and (2) to analyze the influence that sociodemographic variables and difficulties related to learning have in the development of motor deficits. Method Participants were 23 boys and 5 girls with ASD between 4-14 years old. Impairments in motor development were evaluated using the Movement assessment battery for children-2 (MABC-2). Parents provided information on the personal and contextual variables of the participants through a sociodemographic questionnaire and they reported the motor skills of their children through the Checklist of the MABC-2. Results The results suggest that most children with ASD present difficulties in balance and in fine and gross motor skills. Likewise, the analysis of the χ2 tests suggested that curricular adaptations, the presence of siblings and traits such as impulsivity, hyperactivity and speech difficulties are factors related to their motor development. Conclusions The findings highlight the need to address these difficulties from an early age to stimulate and encourage their development.

Prenatal p,p′-DDE exposure and establishment of lateralization and spatial orientation in Mexican preschooler

BackgroundPrenatal exposure to p,p′-DDE is associated with impairments in motor development during the first year of life, with no related repercussions on mental or motor development at 12–30 months and with impairments in cognitive areas, but not in perceptual and motor areas at preschool age. However, its association with particular psychomotor factors, such as establishment of lateralization and spatial orientation, essential elements to the overall learning and specifically reading, writing and spelling in preschoolers, has not been independently evaluated, since cognitive and motor areas have only been explored globally. ObjectiveTo determine the association between prenatal exposure to p,p′-DDE and the establishment of lateralization and spatial orientation in children 5 years of age. Materials and methodsEstablishment of lateralization and spatial orientation was evaluated using the McCarthy Scale of Children's Abilities, with 167 children 5 years of age who participated in a birth cohort in the state of Morelos, Mexico. The information available for each child included: serum concentrations of p,p′-DDE of the mother during at least one trimester of pregnancy, mothers’ intelligence quotients, stimulation at home and anthropometry. A logistic regression model was used to calculate the association between prenatal exposure to p,p′-DDE and lateralization and a multiple linear regression model was used for the association with spatial orientation. ResultsA two-fold increase in p,p′-DDE in lipid base during the second trimester of pregnancy was associated with a significant reduction, −0.18 points (95% CI −0.41; 0.04, in the spatial orientation index, with no impairment in the establishment of hemispheric dominance. Attending preschool and the maternal intelligence quotient were the main determinants of spatial orientation and the establishment of hemispheric dominance. ConclusionsPrenatal exposure to p,p′-DDE may affect the 5 year old's ability to identify spatial orientation of oneself and surrounding objects. Given the observed role of attending preschool in the functions studied, early attendance in formal education might serve as a stimulation strategy for preschoolers. These preliminary results should be verified and expanded in further prospective studies with DDE.

Follow-up of extreme neonatal hyperbilirubinaemia in 5- to 10-year-old children: a Danish population-based study.

To investigate whether infants with neonatal hyperbilirubinaemia but without intermediate or advanced bilirubin encephalopathy develop long-term sequelae, with impairment of motor development, executive function, or hearing. This nested double-cohort study included 167 exposed children (107 males, 60 females) born in Denmark 2000 to 2005 at gestational age ≥35 weeks with a total serum bilirubin ≥450 μmol/L (26.3mg/dL) and 163 age-, sex-, and gestational age-matched unexposed children (103 males, 60 females). The children were examined at a mean age of 7.7 years (SD 1.7y) using the Movement Assessment Battery for Children-Second Edition (MABC-2), pure tone audiometry, and the Behavioural Regulation Inventory of Executive Function (BRIEF) questionnaire. The follow-up rate was 70% of the eligible infants in the exposed group and 45% in the unexposed group. Mean difference was -0.2 (95% confidence interval [CI] -1.1 to 0.8) in adjusted standard score for MABC-2 and 0.3 (95% CI -2.9 to 3.5) in adjusted BRIEF executive composite standard score. No children had significant hearing impairment or a diagnosis of cerebral palsy, attention-deficit-hyperactive disorder, or autism spectrum disorder recorded in national registries. No evidence was found of an increased risk of deficits in motor development, executive function, or hearing in children with extreme hyperbilirubinaemia who did not have intermediate or advanced bilirubin encephalopathy.

Prenatal PM10 and NO2 on infant neurodevelopment at 6, 12 and 24 months of age: MOthers and Children's Environmental Health (MOCEH) study

Background and aims : There are few researches dealing with infantile neurodevelopment for prenatal exposure to air pollution. In this study, we investigated the association between prenatal PM10 and NO2 exposure and neurodevelopment in children through 24 months of age. Methods : This study is a part of MOCEH study which is an on-going, prospective birth cohort study in South Korea. Average exposure levels to PM10 and NO2 during entire pregnancy were estimated using inverse distance weighting (IDW) method. 564 mother-child pairs who completed neurodevelopmental tests more than once at ages of 6, 12 and 24 months were included in the final results. Bayley test (K-BSID-?) was conducted to measure infantile neurodevelopment when the children became 6, 12, and 24 months of age and mental developmental index(MDI) and psychomotor developmental index(PDI) from the test were used for outcome variables. Results : In multiple linear regression model, there were significant effects of prenatal air pollution exposure on MDI (PM10: ?=-0.493; p<0.001, NO2: ?=-0.307; p<0.001) and PDI (PM10: ?=-0.724; p<0.001, NO2: ?=-0.301; p<0.001) at 6 months but not 12 and 24 months of age.GEE analysis also showed the adverse association of maternal exposure to PM10 on MDI (?=-0.283; p=0.003) and PDI (?=-0.300; p=0.002) through 24 months of age. Level of NO2 exposure was related with impairment of motor development (PDI: ?=-0.130; p=0.047) but not with cognitive function. The results explain that the intensity of adverse relationship shown at 6 months might have diminished over time. Nevertheless, adverse relationship was still seen between both substances and neurodevelopmental through 24 months of age considering repeated measurement. Conclusion: Prenatal exposure to air pollution may affect infantile neurodevelopment. Therefore strategies to reduce the exposure during pregnancy are required in order to prevent risks for development in children.

Evaluation and treatment of vestibular dysfunction in children

The effect of vestibular dysfunction since birth is more debilitating than that attained later in life, and unlike adults, children with vestibular dysfunction since or shortly after birth do not recover function without intervention. The purpose of this report is to provide an overview of the etiology of vestibular dysfunction in children as well as the related impairments, and to describe testing methods and evidence based interventions to ameliorate the vestibular related impairments in children. In recent years, investigations have revealed that vestibular dysfunction is more common in children than previously thought, with consequent impairments in motor development, balance and reading abilities. The dysfunction may be due to central or peripheral lesions, each with distinct presentation of symptoms and test results. Common etiologies and clinical presentation of vestibular dysfunction in children are reviewed; appropriate screening and diagnostic techniques and efficacious medical and rehabilitation interventions are presented. Despite advances in clinical and diagnostic testing of vestibular function in children and infants, testing of vestibular function is not typically done. Comprehensive testing of signs and symptoms is critical for diagnosis and implementation of appropriate interventions.

Motor training of sixty minutes once per week improves motor ability in children with congenital heart disease and retarded motor development: a pilot study

Delay and impairment of motor development is reported in patients with congenital heart disease. This pilot study addressed the feasibility and effect of a low-dose motor training programme of 60 min once per week on motor ability in preschool children with congenital heart disease. In all, 14 children--including four girls, in the age group of 4-6 years--with various types of congenital heart disease performed the motor developmental test MOT 4–6 before and after 3 months of a playful exercise programme of 60 min once a week. At baseline, the motor quotient ranged from normal to slightly impaired (median 92.0; Quartile 1: 83.75; Quartile 3: 101.25). After intervention, motor quotient did not change significantly for the entire group (95.0 (88.0, 102.5); p50.141). However, in the subgroup of nine children with retarded motor development at baseline (motor quotient lower 100), seven children had an improved motor quotient after 3 months of intervention. In this subgroup, motor quotient increased significantly (p50.020) by 5%. Overall, a short intervention programme of 60 min only once a week does not improve motor ability in all children with congenital heart disease. However, those with retarded motor development profit significantly from this low-dose intervention.

Delineation and Diagnostic Criteria of Oral-Facial-Digital Syndrome Type VI

Oral-Facial-Digital Syndrome type VI (OFD VI) represents a rare phenotypic subtype of Joubert syndrome and related disorders (JSRD). In the original report polydactyly, oral findings, intellectual disability, and absence of the cerebellar vermis at post-mortem characterized the syndrome. Subsequently, the molar tooth sign (MTS) has been found in patients with OFD VI, prompting the inclusion of OFD VI in JSRD. We studied the clinical, neurodevelopmental, neuroimaging, and genetic findings in a cohort of 16 patients with OFD VI. We derived the following inclusion criteria from the literature: 1) MTS and one oral finding and polydactyly, or 2) MTS and more than one typical oral finding. The OFD VI neuroimaging pattern was found to be more severe than in other JSRD subgroups and includes severe hypoplasia of the cerebellar vermis, hypoplastic and dysplastic cerebellar hemispheres, marked enlargement of the posterior fossa, increased retrocerebellar collection of cerebrospinal fluid, abnormal brainstem, and frequently supratentorial abnormalities that occasionally include characteristic hypothalamic hamartomas. Additionally, two new JSRD neuroimaging findings (ascending superior cerebellar peduncles and fused thalami) have been identified. Tongue hamartomas, additional frenula, upper lip notch, and mesoaxial polydactyly are specific findings in OFD VI, while cleft lip/palate and other types of polydactyly of hands and feet are not specific. Involvement of other organs may include ocular findings, particularly colobomas. The majority of the patients have absent motor development and profound cognitive impairment. In OFD VI, normal cognitive functions are possible, but exceptional. Sequencing of known JSRD genes in most patients failed to detect pathogenetic mutations, therefore the genetic basis of OFD VI remains unknown. Compared with other JSRD subgroups, the neurological findings and impairment of motor development and cognitive functions in OFD VI are significantly worse, suggesting a correlation with the more severe neuroimaging findings. Based on the literature and this study we suggest as diagnostic criteria for OFD VI: MTS and one or more of the following: 1) tongue hamartoma(s) and/or additional frenula and/or upper lip notch; 2) mesoaxial polydactyly of one or more hands or feet; 3) hypothalamic hamartoma.

Decreased connectivity and cerebellar activity in autism during motor task performance.

Although motor deficits are common in autism, the neural correlates underlying the disruption of even basic motor execution are unknown. Motor deficits may be some of the earliest identifiable signs of abnormal development and increased understanding of their neural underpinnings may provide insight into autism-associated differences in parallel systems critical for control of more complex behaviour necessary for social and communicative development. Functional magnetic resonance imaging was used to examine neural activation and connectivity during sequential, appositional finger tapping in 13 children, ages 8-12 years, with high-functioning autism (HFA) and 13 typically developing (TD), age- and sex-matched peers. Both groups showed expected primary activations in cortical and subcortical regions associated with motor execution [contralateral primary sensorimotor cortex, contralateral thalamus, ipsilateral cerebellum, supplementary motor area (SMA)]; however, the TD group showed greater activation in the ipsilateral anterior cerebellum, while the HFA group showed greater activation in the SMA. Although activation differences were limited to a subset of regions, children with HFA demonstrated diffusely decreased connectivity across the motor execution network relative to control children. The between-group dissociation of cerebral and cerebellar motor activation represents the first neuroimaging data of motor dysfunction in children with autism, providing insight into potentially abnormal circuits impacting development. Decreased cerebellar activation in the HFA group may reflect difficulty shifting motor execution from cortical regions associated with effortful control to regions associated with habitual execution. Additionally, diffusely decreased connectivity may reflect poor coordination within the circuit necessary for automating patterned motor behaviour. The findings might explain impairments in motor development in autism, as well as abnormal and delayed acquisition of gestures important for socialization and communication.

A Comparison of Motor Delays in Young Children: Autism Spectrum Disorder, Developmental Delay, and Developmental Concerns

This study assessed motor delay in young children 21-41 months of age with autism spectrum disorder (ASD), and compared motor scores in children with ASD to those of children without ASD. Fifty-six children (42 boys, 14 girls) were in three groups: children with ASD, children with developmental delay (DD), and children with developmental concerns without motor delay. Descriptive analysis showed all children with ASD had delays in gross motor skills, fine motor skills, or both. Children with ASD and children with DD showed significant impairments in motor development compared to children who had developmental concerns without motor delay. Motor scores of young children with ASD did not differ significantly on motor skill measures when compared to young children with DD.

School achievements and schizophrenia: a case-control study.

To compare school performance during middle childhood and adolescence among subjects later diagnosed with schizophrenia and their peers. School records were ascertained from archives in 76 acutely symptomatic schizophrenic patients and 146 controls matched for gender and graded by the same teachers. At age 9, no differences in yearly graded school subjects were found. At 12, cases had higher marks in drawing/art and a tendency to excel in language and religion. At 15, the proficient performance in drawing/art remained, but cases performed worse than controls in gymnastics. The cases reported high frequency of school adaptation problems. Severity of psychotic symptoms at admission was associated with lower and declining marks. Schizophrenic patients seem to perform as well as their classmates in most subjects taught in compulsory basic school. Findings indicating specific talents in artistic ability and impairments in motor development need to be further investigated.