Developmental Coordination Disorder Research Articles

Reduction in limb-movement complexity at term-equivalent age is associated with motor developmental delay in very-preterm or very-low-birth-weight infants

Reduced complexity during the writhing period can be crucial in the spontaneous movements of high-risk infants for neurologic impairment. This study aimed to verify the association between quantified complexity of upper and lower-limb movements at term-equivalent age and motor development in very-preterm or very-low-birth-weight infants. Video images of spontaneous movements at term-equivalent age were collected from very-preterm or very-low-birth-weight infants. A pretrained pose-estimation model and sample entropy (SE) quantified the complexity of the upper- and lower-limb movements. Motor development was evaluated at 9 months of corrected age using Bayley Scales of Infant and Toddler Development, Third Edition. The SE measures were compared between infants with and without motor developmental delay (MDD). Among 90 infants, 11 exhibited MDD. SE measures at most of the upper and lower limbs were significantly reduced in infants with MDD compared to those without MDD (p < 0.05). Composite scores in the motor domain showed significant positive correlations with SE measures at most upper and lower limbs (p < 0.05). The results show that limb-movement complexity at term-equivalent age is reduced in infants with MDD at 9 months of corrected age. SE of limb movements can be a potentially useful kinematic parameter to detect high-risk infants for MDD.

The Dutch Lifelines Cohort: The risk of developmental coordination disorder runs in families.

The Dutch Lifelines Cohort: The risk of developmental coordination disorder runs in families.

"Association between perinatal mood disorders of parents and child health outcomes".

Perinatal mood disorders affect both parents, impacting their children negatively. Little is known on the association between parental perinatal mood disorders and pediatric outcomes in Japan considering relevant covariates. Our objective was to investigate the association between paternal and maternal perinatal mood disorders and adverse physical and psychological child outcomes by the age of 36 months, adjusting for covariates such as the child's sex, age of parent at child's birth, perinatal mood disorders of the other parent, and perinatal antidepressant use. We identified parents in the JMDC Claims Database in Japan from 2012 to 2020. Perinatal mood disorders were defined using International Classification of Diseases, 10th codes for mood disorders during the perinatal period combined with psychiatric treatment codes. We evaluated the association between parental perinatal mood disorders and pediatric adverse outcomes by the age of 36 months using Cox proportional hazard models adjusted for the covariates. Of the 116,423 father-mother-child triads, 2.8% of fathers and 2.3% of mothers had perinatal mood disorders. Paternal perinatal mood disorders were not significantly associated with adverse child outcomes. After adjusting for paternal perinatal mood disorders and antidepressant use, maternal perinatal mood disorders were associated with delayed motor development, language development disorders, autism spectrum disorders, and behavioral and emotional disorders (adjusted hazard ratio [95% confidence interval]: 1.65 [1.01-2.69], 2.26 [1.36-3.75], 4.16 [2.64-6.55], and 6.12 [1.35-27.81], respectively). Paternal perinatal mood disorders were not associated with adverse child outcomes in this population. Maternal perinatal mood disorders were associated with multiple child outcomes.

Physical Fitness in Children With Developmental Coordination Disorder: A Systematic Review.

To synthesize evidence about physical fitness levels in children with developmental coordination disorder (DCD) compared with typically developing (TD) children. We searched four databases (PubMed, Scopus, Web of Science, and PsycINFO) for cross-sectional, case-control, and cohort studies comparing physical fitness between children with and without DCD. We assessed the methodological quality of the studies with the Newcastle-Ottawa Scale (NOS). We calculated Cohen's d effect sizes to provide clinical evidence of group differences in aerobic capacity, anaerobic capacity, muscle strength, body composition and flexibility. We included 32 studies for qualitative synthesis after applying eligibility criteria. All selected studies ranged from moderate to high research quality. Effect sizes in favor of typically developing children over children with DCD were large for aerobic capacity (d = 1.15), anaerobic capacity (d = 0.90), and muscle strength (d = 0.79), and small for body composition (d = 0.43) and flexibility (d = 0.21) outcomes. Children with DCD presented significantly lower physical fitness than their typically developing peers, particularly in aerobic and anaerobic capacity and in muscle strength.

Developmental coordination disorder in preterm children: A systematic review and meta-analysis.

This study aimed to review the prevalence of developmental coordination disorder (DCD) in individuals born preterm and systematically explore this prevalence according to gestational age and different assessment cut-offs and compare it to full-term peers. The eligibility criteria were observational and experimental studies reporting the prevalence of DCD in preterm individuals. A systematic search was performed in databases from inception until March 2022. Two independent reviewers performed the selection. Study quality assessment was performed using the checklists from Joanna Briggs Institute (JBI). Data analysis was performed on Excel and Review Manager Software 5.4. Among the 1774 studies identified, 32 matched the eligibility criteria. The pooled estimate rate of the DCD rate in preterm was 21% (95% confidence interval [CI] 17.8-24.3). The estimate rates were higher as gestational age decreased, and preterm children are two times more likely to have DCD than their full-term peers risk ratio (RR) 2.2 (95% CI 1.77-2.79). The limitation was high heterogeneity between studies; the assessment tools, cut-off points and age at assessment were diverse. This study provided evidence that preterm children are at higher risk for DCD than full-term children, and the risks increased as gestational age decreased.

VAMP1-Related Congenital Myasthenic Syndrome: A Case Report and Literature Review.

Congenital myasthenic syndrome-25 (CMS-25) is an autosomal recessive neuromuscular disorder caused by a homozygous mutation in VAMP1 gene. To date, only eight types of allelic variants in VAMP1 gene have been reported in 12 cases of CMS-25. Here, we report on an 8-year-old boy with motor developmental delay, axial hypotonia, myopathic face, muscle weakness, strabismus, ptosis, pectus carinatum, kyphoscoliosis, joint contractures, joint laxity, seizures, and recurrent nephrolithiasis. He also had feeding difficulties and recurrent aspiration pneumonia. Brain magnetic resonance imaging at 20 months of age showed left focal cerebellar hypoplasia. Genetic analysis revealed a homozygous missense variant of c.202C > T (p.Arg68Ter) in the VAMP1 gene. Treatment with oral pyridostigmine was started, which resulted in mild improvement in muscle strength. Salbutamol syrup was added a few months later, but no significant improvement was observed. This case report presents novel findings such as focal cerebellar hypoplasia and nephrolithiasis in VAMP1-related CMS-25. Consequently, this case report extends the clinical spectrum. Further studies are needed to expand the genotype-phenotype correlations in VAMP1-related CMS-25.

The relationship between executive function and the association of motor coordination difficulties and social communication deficits in autistic children.

Motor coordination difficulties could contribute to social communication deficits in autistic children. However, the exploration of the mechanism implicated in these claims has been limited by the lack of potential confounders such as executive function (EF). We investigated the role that EF plays in the relationship between motor coordination and social communication in a school-aged autistic population via a structural model in a statistically robust manner. The results of questionnaires, including the Developmental Coordination Disorder questionnaire, the Behavior Rating Inventory of Executive Function, and the Social Responsiveness Scale, were collected to measure motor coordination, social communication deficits, and EF. A total of 182 autistic children (7.61±1.31 years, 87.9% boys) were included in the final analysis. In the model with EF as a mediator, the total effect (β=-0.599, P<0.001) and the direct effect (β=-0.331, P =0.003) of motor coordination function on social communication were both significant among autistic children without intellectual disability (ID), as were indirect effects through EF (β=-0.268, P<0.001). EF partially mediates the motor coordination and social communication correlation among autistic children. We suggest that motor coordination should be included in the routine evaluation of autistic surveillance and rehabilitation procedures.

[Clinical and genetic spectrum of 6 cases with asparagine synthetase deficiency].

Objective: To explore the clinical and genetic characteristics of asparagine synthase deficiency. Methods: Case series studies. Retrospective analysis and summary of the clinical data of 6 cases with asparagine synthase deficiency who were diagnosed by genetic testing and admitted to the Third Affiliated Hospital of Zhengzhou University from May 2017 to April 2023 were analyzed retrospectively. The main clinical features, laboratory and imaging examination characteristics of the 6 cases were summarized, and the gene variation sites of them were analyzed. Results: All of the 6 cases were male, with onset ages ranging from 1 month to 1 year and 4 months. All of the 6 cases had cognitive and motor developmental delay, with 3 cases starting with developmental delay, 3 cases starting with convulsions and later experiencing developmental arrest or even regression. All of 6 cases had epilepsy, in whom 2 cases with severe microcephaly developed epileptic encephalopathy in the early stages of infancy with spasms as the main form of convulsions, 4 cases with mild or no microcephaly gradually evolved into convulsions with no fever after multiple febrile convulsions with focal seizures, tonic clonic seizures and tonic seizure as the main forms of convulsions. Three cases of 4 gradually developed into stagnation or even regression of development and ataxia after multiple convulsions with no fever. There were normal cranial imaging in 2 cases, dysplasia of the brains in 1 cases, frontal lobe apex accompanied by abnormal white matter signal in the frontal lobe and thin corpus callosum in 1 case, thin corpus callosum and abnormal lateral ventricular morphology in 1 case, and normal in early stage, but gradually developing into cerebellar atrophy at the age of 5 years and 9 months in 1 case. Two cases underwent visual evoked potential tests, the results of which were both abnormal. Three cases underwent auditory evoked potential examination, with 1 being normal and 2 being abnormal. All of 6 cases had variations in the asparagine synthase gene, with 2 deletion variations and 7 missense variations. The variations of 2 cases had not been reported so far, including c.1341_1343del and c.1283A>G, c.1165_1167del and c.1075G>A. The follow-up time ranged from 3 months to 53 months. Two cases who had severe microcephaly died in infancy, while the other 4 cases with mild or no microcephaly were in survival states until the follow-up days but the control of epilepsy was poor. Conclusions: Asparagine synthase deficiency has a certain degree of heterogeneity in clinical phenotype. Children with obvious microcephaly often present as severe cases, while children with mild or no microcephaly have relatively mild clinical manifestations. The variation of asparagine synthetase gene is mainly missense variation.

A loss of function mutation in CLDN25 causing Pelizaeus-Merzbacher-like leukodystrophy.

Claudin-25 (CLDN-25), also known as Claudin containing domain 1, is an uncharacterized claudin family member. It has less conserved amino acid sequences when compared to other claudins. It also has a very broad tissue expression profile and there is currently a lack of functional information from murine knockout models. Here, we report a de novo missense heterozygous variant in CLDN25 (c. 745G>C, p. A249P) found in a patient diagnosed with Pelizaeus-Merzbacher-like leukodystrophy and presenting with symptoms such as delayed motor development, several episodes of tonic absent seizures and generalized dystonia. The variant protein does not localize to the cell-cell borders where it would normally be expected to be expressed. Amino acid position 249 is located 4 amino acids from the C-terminal end of the protein where most claudin family members have a conserved binding motif for the key scaffolding protein ZO-1. However, CLDN-25 does not contain this motif. Here, we show that the C-terminal end of CLDN-25 is required for its junctional localization in a ZO-1 independent manner. The A249P mutant protein as well as a deletion mutant lacking its last 5 C-terminal amino acids also failed to localize to the cell-cell border in vitro. Intriguingly, cellular knockout of CLDN25, in vitro, appeared to increase the integrity of the tight junction between 2 contacting cells, while driving highly unusual increased movement of solutes between cells. We propose that the barrier function of CLDN-25 is akin to a decoy claudin, whereby decreasing its expression in "leaky" epithelial cells and endothelial cells will drive dynamic changes in the adhesion and interaction capacity of cell-cell contact points. While it remains unclear how this de novo CLDN-25 mutant induces leukodystrophy, our findings strongly suggest that this mutation induces haploinsufficiency of CLDN-25. Elucidating the function of this uncharacterized claudin protein will lead to a better understanding of the role of claudin proteins in health and disease.

Exploring the presence and impact of sensory differences in children with Developmental Coordination Disorder

BackgroundChildren with Developmental Coordination Disorder (DCD) can experience sensory differences. There has been limited exploration of these differences and their impact on children with DCD. Aimsi) To explore the presence and impact of sensory differences in children with DCD compared to children without DCD; ii) To examine whether sensory differences are related to motor ability, attention deficit hyperactivity disorder (ADHD), or autistic traits. MethodParents of children (8–12 years) with (n = 23) and without (n = 33) DCD used standardised questionnaires to report on their children’s sensory differences, autistic traits, and ADHD traits. Motor abilities were assessed through the Movement Assessment Battery for Children-2. Data were explored both categorically (between-groups) and dimensionally. ResultsChildren with DCD had significantly higher levels of sensory differences than children without DCD. Sensory differences also had a significantly greater impact on daily activities for children with DCD. Higher levels of ADHD and autistic traits, but not motor ability, were significant independent predictors of higher levels of sensory difference. ConclusionChildren with DCD experience high levels of sensory differences, which impact on their daily lives. These sensory differences may be a marker for additional neurodivergence in children with DCD. Practitioners should consider the sensory needs of children with DCD. What this paper addsThis paper provides insight into the sensory features of children with DCD and the impact that sensory differences can have on daily living. Using parent-report, we found that children with DCD had increased sensory differences relative to children without DCD. These included increased hyperresponsiveness, increased hyporesponsiveness, and increased sensory interests, repetitions, and seeking behaviours (SIRS). We also found that sensory differences had a greater impact on daily living for children with DCD compared to children without DCD. Across the whole sample, autistic traits predicted hyperresponsivity and hyporesponsivity patterns; whereas traits of hyperactivity and impulsivity predicted SIRS. Motor abilities did not uniquely predict sensory differences, suggesting that other traits of neurodivergence may contribute to the sensory differences in DCD. Taken together, these findings highlight the necessity of considering sensory needs when supporting children with DCD. They also suggest that if sensory differences are identified in children with DCD, it may be due to the presence of co-occurring neurodivergent traits or conditions.

Comparing motor development in children with hydrocephalus after treatment with ventriculoperitoneal shunt and endoscopic third ventriculostomy: a cross-sectional study

Introduction Ventriculoperitoneal shunt insertion (VPSI) and endoscopic third ventriculostomy (ETV) are the major procedures for treating pediatric hydrocephalus. However, studies comparing motor development following the two treatments are limited.Objective We aimed to determine motor development outcomes in children with hydrocephalus up to 2 years of age after undergoing VPSI or ETV, to identify which surgical approach yields better motor outcomes and may be more effective for Malawian children.Methods This was a cross-sectional study where we recruited two groups of participants: one group consisted of children with hydrocephalus treated with VP shunt whilst the other group were treated with ETV, at least 6 months prior to this study. Participants were identified from the hospital records and were called to come for neurodevelopmental assessment using the Malawi Development Assessment Tool (MDAT).ResultsA total 152 children treated for hydrocephalus within an 18-month period met the inclusion criteria. Upon follow up and tracing, we recruited 25 children who had been treated: 12 had VPSI and 13 had ETV. MDAT revealed delays in both assessed motor domains: 19 out of the 25 children had delayed gross motor whilst 16 of 25 had delayed fine motor development. There was no significant difference between the shunted and the ETV groups. Conclusion Children with hydrocephalus demonstrate delays in motor development six to 18 months after treatment with either VPSI or ETV. This may necessitate early and prolonged intensive rehabilitation to restore motor function after surgery. Long-term follow-up studies with bigger sample sizes are required to detect the effect of the two treatment approaches.

Investigating the impact of developmental coordination difficulties across home, school, and community settings: Findings from the Australian Impact for DCD survey

AimTo evaluate the participation difficulties experienced by children with developmental coordination disorder (DCD) in home, school, and community environments. MethodsThe Impact for DCD survey was completed by primary caregivers of 4–18-year-old children with DCD (or synonymous diagnosis) (n = 429). Outcomes and resultsThe greatest participation difficulties experienced at home included dressing, eating with utensils, self-care tasks and drawing/writing reported by over 70% of families. At school, fine motor difficulties were also frequently reported, with additional difficulties keeping up or completing tasks, and not feeling supported at school. Socialisation challenges and bullying were also commonly reported (34.9%). As a result of participation difficulties at school, 5.4% were home schooled. Many children engaged in community activity, with 72.0% currently engaged in at least one organised sports-based activity. Conclusions and implicationsIncreased recognition of the widespread impact of DCD in a child’s life is crucial at an individual and societal level. Parents reported their children experiencing significant participation restrictions and difficulties. The findings of this large-scale study have revealed that most children with DCD are not receiving the support they need to thrive, especially at school. This largely reflects a lack of understanding and recognition of the condition and its associated challenges.

Congenital Heart Defects in Patients with Molecularly Confirmed Sotos Syndrome.

Sotos syndrome is an autosomal dominant condition characterized by overgrowth with advanced bone age, macrodolicocephaly, motor developmental delays and learning difficulties, and characteristic facial features caused by heterozygous pathogenetic variants in the NSD1 gene located on chromosome 5q35. The prevalence of heart defects (HDs) in individuals with Sotos syndrome is estimated to be around 15-40%. Septal defects and patent ductus arteriosus are the most commonly diagnosed malformations, but complex defects have also been reported. The aim of our study was to analyze the prevalence of HD, the anatomic types, and the genetic characteristics of 45 patients with Sotos syndrome carrying pathogenetic variants of NSD1 or a 5q35 deletion encompassing NSD1, who were followed at Bambino Gesù Children's Hospital in Rome. Thirty-nine of the forty-five patients (86.7%) had a mutation in NSD1, while six of the forty-five (13.3%) had a deletion. Most of the patients (62.2%, 28/45) were male, with a mean age of 14 ± 7 years (range 0.2-37 years). A total of 27/45 (60.0%) of the patients had heart defects, isolated or combined with other defects, including septal defects (12 patients), aortic anomalies (9 patients), mitral valve and/or tricuspid valve dysplasia/insufficiency (1 patient), patent ductus arteriosus (3 patients), left ventricular non-compaction/hypertrabeculated left ventricle (LV) (4 patients), aortic coarctation (1 patient), aortopulmonary window (1 patient), and pulmonary valve anomalies (3 patients). The prevalences of HD in the two subgroups (deletion versus intragenic mutation) were similar (66.7% (4/6) in the deletion group versus 58.91% (23/39) in the intragenic variant group). Our results showed a higher prevalence of HD in patients with Sotos syndrome in comparison to that described in the literature, with similar distributions of patients with mutated and deleted genes. An accurate and detailed echocardiogram should be performed in patients with Sotos syndrome at diagnosis, and a specific cardiological follow-up program is needed.

Caregiver and youth inter-rater assessment agreement in autism spectrum disorder, developmental coordination disorder, and typical development.

Youth diagnosed with autism spectrum disorder (ASD) and those with developmental coordination disorder (DCD) are at heightened risk for co-occurring mental health diagnoses, especially anxiety and attention-deficit/hyperactivity disorder (ADHD). However, caregiver-child agreement on presence of related symptoms in populations with neurodevelopmental conditions is not well understood. Here, we examine the extent to which 37 ASD, 26 DCD, and 40 typically developing children and their caregivers agree on the degree of the child's symptoms of anxiety and ADHD. All caregiver-child dyads completed the Screen for Child Anxiety Related Emotional Disorders and Conners 3 ADHD Index. Across groups, intraclass correlations indicated generally poor agreement on anxiety and ADHD symptomatology. Although youth generally reported greater internalizing symptoms (i.e., anxiety), caregivers tended to report more observable externalizing behaviors (i.e., ADHD). Together, the results of this study support the need for a multi-informant approach in assessments of anxiety and ADHD in youth with neurodevelopmental disorders.

Bibliographical Review on Rehabilitation of Executive Functions in Patients With Developmental Coordination Disorder (DCD)

Bibliographical Review on Rehabilitation of Executive Functions in Patients With Developmental Coordination Disorder (DCD)

Analysis of Gait, Pelvic Movement, and Medial Gastrocnemius Structure according to Muscle Tone in Children with Delayed Motor Development

Analysis of Gait, Pelvic Movement, and Medial Gastrocnemius Structure according to Muscle Tone in Children with Delayed Motor Development

The Relationship of Body Weight, Exclusive Breastfeeding, MP-ASI and Energy Intake with Stunting in Toddlers

The incidence of stunting in toddlers is a global nutritional problem. Stunting causes delays in fine motor and gross motor development, increases morbidity and mortality rates, and increases the risk of metabolic disorders in adulthood. The aim of this study was to determine the relationship between body weight, exclusive breastfeeding, MP-ASI (weaning foods) and energy intake with stunting in toddlers aged 24-59 months. This research is descriptive analytical with a cross sectional design. The sample consisted of 92 participants selected using simple random sampling technique. Data collected with body weight measurements for birth weight, exclusive breastfeeding and MP-ASI questionnaires, energy intake calculate using daily energy requirements calculator, and stunting incidence questionnaire. Data analysis was carried out using the Chi-square test (P&lt;0.05). The results of the study explain that there is a relationship between body weight (p=0.000), exclusive breastfeeding (p=0.003), MP-ASI (p=0.004) and energy intake (p=0.000) with the incidence of stunting in toddlers aged 24–59 months. The research conclusion is that there is a relationship between body weight, exclusive breastfeeding, complementary foods and energy intake with the incidence of stunting in toddlers aged 24-59 months.

Caregiver Parenting Stress Associated with Delays in Child Social-Emotional and Motor Development

Caregiver Parenting Stress Associated with Delays in Child Social-Emotional and Motor Development

Structural models of genome-wide covariance identify multiple common dimensions in autism.

Common genetic variation has been associated with multiple phenotypic features in Autism Spectrum Disorder (ASD). However, our knowledge of shared genetic factor structures contributing to this highly heterogeneous phenotypic spectrum is limited. Here, we developed and implemented a structural equation modelling framework to directly model genomic covariance across core and non-core ASD phenotypes, studying autistic individuals of European descent with a case-only design. We identified three independent genetic factors most strongly linked to language performance, behaviour and developmental motor delay, respectively, studying an autism community sample (N = 5331). The three-factorial structure was largely confirmed in independent ASD-simplex families (N = 1946), although we uncovered, in addition, simplex-specific genetic overlap between behaviour and language phenotypes. Multivariate models across cohorts revealed novel associations, including links between language and early mastering of self-feeding. Thus, the common genetic architecture in ASD is multi-dimensional with overarching genetic factors contributing, in combination with ascertainment-specific patterns, to phenotypic heterogeneity.

Birth weight and head circumference discordance and outcome in preterms: results from the EPIPAGE-2 cohort

ObjectiveTo determine whether the relative measurement of birth weight (BW) and head circumference (HC) in preterm infants is associated with neurological outcomes.MethodsThe EPIPAGE-2 Study included 3473 infants born before 32...