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.

Alteration of body representation in typical and atypical motor development.

Developmental coordination disorder (DCD) impacts the quality of life and ability to perform coordinated actions in 5% of school-aged children. The quality of body representations of individuals with DCD has been questioned, but never assessed. We hypothesize that children with DCD have imprecise body representations in the sensory and motor domains. Twenty neurotypical children, seventeen children with DCD (8-12 years old) and twenty neurotypical adults (25-45 years old) performed both sensory and motor body representation tasks: a limb identification and a limb movement task. We observed lower accuracy in the sensory task but not in the motor task. In both tasks, we observe a larger amplitude of errors, or synkinesis, in children with DCD than in neurotypical children. In neurotypical children, accuracy was lower than in neurotypical adults in the motor and sensory task, and the amplitude of sensory errors and synkinesis was higher than in neurotypical adults. Using a linear regression model, we showed that sensory accuracy is a good predictor of synkinesis production, and that synkinesis production is a good predictor of sensory accuracy, as can be expected by the perception-action loop. Results support the hypothesis of an imprecision of body representation in DCD. We suggest that this imprecision arises from noise in the body representation used at the level of internal models of action. Future studies may assess whether slower plasticity of body representations, initial imprecision, or both may account for this observation. At the clinical level, prevention strategies targeting body representation in early childhood are strategically important to limit such impairments. RESEARCH HIGHLIGHTS: Body representation is impaired in children with DCD and has a significant cost in terms of the accuracy of sensory identification of body parts and associated movements. Inaccuracies in the body representation measured in perception and in action (error amplitude and synkinesis) are related in both NT children and adults. In typical development, we provide evidence of a strong link between body schema and body image.

Atypical procedural learning in children with developmental coordination disorder: A combined behavioral and neuroimaging study.

While procedural learning (PL) has been implicated in delayed motor skill observed in developmental coordination disorder (DCD), few studies have considered the impact of co-occurring attentional problems. Furthermore, the neurostructural basis of PL in children remains unclear. We investigated PL in children with DCD while controlling for inattention symptoms, and examined the role of fronto-basal ganglia-cerebellar morphology in PL. Fifty-nine children (6-14 years; nDCD = 19, ncontrol = 40) completed the serial reaction time (SRT) task to measure PL. The Attention-Deficit Hyperactivity Disorder Rating Scale-IV was administered to measure inattention symptoms. Structural T1 images were acquired for a subset of participants (nDCD = 10, ncontrol = 28), and processed using FreeSurfer. Volume was extracted for the cerebellum, basal ganglia, and frontal regions. After controlling for inattention symptoms, the reaction time profile of controls was consistent with learning on the SRT task. This was not the case for those with DCD. SRT task performance was positively correlated with cerebellar cortical volume, and children with DCD trended towards lower cerebellar volume compared to controls. Children with DCD may not engage in PL during the SRT task in the same manner as controls, with this differential performance being associated with atypical cerebellar morphology.

Objectively Measured Physical Activity in Children With Developmental Coordination Disorder: A Systematic Review and Meta-analysis.

OBJECTIVE: To conduct a systematic review and meta-analysis to understand the difference in objectively measured physical activities (PAs) between children with and without developmental coordination disorder (DCD). DATA SOURCES: A systematic literature search of 4 databases (PubMed, Science Direct, Web of Science, and Cochrane library) was conducted in July 2023. STUDY SELECTION: Studies that met the following criteria were considered classified children with DCD based on Diagnostic and Statistical Manual of Mental Disorders, Fourth Edition (DSM-IV), DSM-IV-Text Revision, or DSM-V diagnosis criteria, evaluated PA using objective measurements and provided the amount of time spent in PA and/or sedentary behavior, included a control group of typically developing children, and written in English. DATA EXTRACTION: Data extracted from all included studies were: first author's surname and publication year, study design, country, total sample size, the measure of PA, the intensity of PA, categories of PA level, and main finding(s). DATA SYNTHESIS: Twelve articles met the inclusion criteria for the systematic review, 10 of which were included in the meta-analysis. The overall mean difference in moderate-to-vigorous PA (MVPA) between 2 groups was -0.17 (95% CI, -0.25 to -0.09), (I2=48.7%, P=.029). A subgroup analysis by age (ie, school-aged vs. preschool) showed a significant pooled effect size with no heterogeneity in school-aged children (ie, 6-14y) (standardized mean difference=-0.27, 95% CI, -0.38 to -0.16, I2=43.1%, P=.08). CONCLUSIONS: Children with DCD spent significantly less time participating in MVPA, particularly those aged between 6 and 14 years. These findings highlight the need for increased awareness among parents and physicians regarding insufficient participation in PA among children with DCD.

Finger counting to relieve working memory in children with developmental coordination disorder: Insights from behavioral and three-dimensional motion analyses.

A limited number of studies have attempted to understand how motor deficits affect numerical abilities in children with developmental coordination disorder (DCD). The purpose of this study was to explore the functionality of finger-counting (FC) in children with DCD. The participants, 15 children with DCD and 15 typically developing (TD) children matched on school level and fluid reasoning abilities, were asked to use FC to solve an ordinal task with high working memory (WM) load. Behavioral measures supplemented with biomechanical measures, from three-dimensional motion analysis synchronized to a voice recording were used to assess children's performance and FC functionality (total duration, inter-finger [IF] transition, IF variance, finger/voice synchronization, and automatization of FC movements). Children with DCD were less accurate than TD children in using FC to solve ordinal problems with high WM load. This group difference could not be accounted for by poor FC skills given that FC movement turned out to be as functional in children with DCD as in their TD peers. When added to the model as a covariate, WM captured a greater proportion of intergroup variability than manual dexterity, further suggesting that their difficulties would be better accounted for by limited WM resources than by fine motor skills.

One-third of children had clinical signs of developmental coordination disorder 6 months after their international adoption.

AIM: Our aim was to fill a gap in the research about the prevalence of developmental coordination disorder (DCD) among internationally adopted children. We explored the prevalence of signs of DCD and the associations between those and behavioural problems six and 18 months after adoption. METHODS: The data came from the ongoing Finnish Adoption Study 2 and this research focused on the international adoptions of children under 7 years of age between 2012 and 2016. Their motor development was tested with the Movement Assessment Battery for Children, Second Edition to identify DCD symptoms. Behavioural symptoms were measured using the Child Behavior Checklist (CBCL). Only children aged 3 years plus were tested. RESULTS: The 95 children (70% boys) arrived in Finland at a mean age of 3.3 years. Six months later, 35% of the 49 children who were tested had clinical DCD symptoms and this has fallen to 13% of 67 at 18 months. Symptoms at 6 months were associated with higher internalising CBCL scores at 18 months. CONCLUSION: DCD symptoms in internationally adopted children were double the rate in the general child population 18 months after adoption. Early motor problems 6 months after adoption were associated with later behavioural symptoms.

Digital motor intervention effects on motor performance of individuals with developmental disabilities: a systematic review.

BACKGROUND: Individuals (i.e. children/young adults) with developmental disabilities (DDs) and intellectual disabilities (IDs) often display a variety of physical and motor impairments. It is well known that participation in motor activities can positively impact the development of children's cognitive and social skills. Recently, virtual and digital technologies (e.g. video conferencing applications, virtual reality and video gaming) have been increasingly used to promote better physical/motor outcomes. The efficacy of digital technologies in improving motor outcomes for those with DD/ID varies depending on the technology and population, and the comparative effects of various technologies are unknown. The aim of our study is to conduct a systematic review to comprehensively examine the quantitative and qualitative results of current studies reporting the efficacy of digitally based motor interventions on motor outcomes in individuals with DD/ID. METHODS: Literature published from 1900 to 2024 was searched in four health sciences databases: PubMed, PsycINFO, Scopus and CINAHL. Articles that examined the effects of gross motor/physical activity training using technologies such as exergaming (i.e. exercise through video gaming such as the Wii and Xbox Kinect), virtual reality or telehealth video conferencing applications (i.e. Zoom, Webex or mobile health apps) on the standardised or game-specific gross motor performance of individuals with DD/ID diagnoses that do not typically experience significant walking challenges using experimental or quasi-experimental study designs were included. Thirty relevant articles were retrieved from a search of the databases PubMed (914), PsycINFO (1201), Scopus (1910) and CINAHL (948). RESULTS: Our quantitative synthesis of this published literature suggests strong and consistent evidence of small-to-large improvements in motor skill performance following digital movement interventions. CONCLUSIONS: Our review supports the use of digital motor interventions to support motor skill performance in individuals with DD without ID. Digital technologies can provide a more engaging option for therapists to promote motor skill development in individuals with DD or for caregivers to use as an adjunct to skilled therapy.

Effects of methylphenidate and physiotherapeutic treatment on graphomotor movements in children with ADHD.

In addition to the core symptoms defining ADHD, affected children often experience motor problems; in particular, graphomotor movements including handwriting are affected. However, in clinical settings, there is little emphasis on standardized and objective diagnosing and treatment of those difficulties. The present study investigated for the first time the effects of methylphenidate as well as physiotherapeutic treatment on objectively assessed graphomotor movements compared to a control condition, i.e. parental psychoeducation, in 58 children (mean age: 9.52 ± 1.91 years) newly diagnosed with ADHD in an outpatient clinic for child and adolescent psychiatry. Families were invited to join one of the treatment groups. Before and after 8 weeks of treatment, children performed six different tasks on a digitizing tablet which allowed the objective analysis of three important kinematic parameters of graphomotor movements (fluency, velocity, and pen pressure) in different levels of visual control and automation. Graphomotor movement fluency and velocity improves over time across the groups, especially in tasks with eyes closed. We did not find clear evidence for beneficial effects of methylphenidate or physiotherapeutic treatment on children's overall graphomotor movements suggesting that treatments need to be better tailored towards specific and individual deficits in graphomotor movements.

Prevalence and associated factors of developmental coordination disorder in primary school children.

Developmental coordination disorder (DCD) is one of the most frequently observed movement disorders in childhood, yet data on its prevalence are still unclear. This two-stage epidemiological study aims to determine the prevalence of DCD in children between 6 and 10 years of age according to the diagnostic criteria of the Diagnostic and Statistical Manual of Mental Disorders-5 (DSM-5). In the first stage, the Developmental Coordination Disorder Questionnaire (DCDQ'07) were given to primary school students. In the second stage, clinicians conducted psychiatric interviews with children who had an indication of DCD or were suspected of having DCD according to the DCDQ'07 and their parents. The interviews utilized the DSM-5 diagnostic criteria for DCD and applied the Schedule for Affective Disorders and Schizophrenia for School-Age Children-Present and Lifetime Version-Turkish Adaptation (K-SADS-PL) and Wechsler Intelligence Scale for Children (WISC-R) to identify co-occurring disorders. In the first stage, 2,306 children were evaluated, and 205 were invited for a clinical interview. Of the 198 children interviewed, 49 met the diagnostic criteria for DCD. The prevalence of DCD in Türkiye was found to be 2.1%. High parental education level, a previous psychiatric admission of the child, mother's postpartum depressive symptoms, co-occurring disorders, and co-occurring attention deficit hyperactivity disorder (ADHD) were significantly more common among children with DCD. Potentially associated factors were evaluated by logistic regression analysis. The mother's education level, the presence of postpartum depressive symptoms, and co-occurring disorders in the child were found to be associated factors.

Cortical activity during online motor control in children with and without developmental coordination disorder: a cross-sectional functional near-infrared spectroscopy study.

BACKGROUND: Children with developmental coordination disorder (DCD) have impaired online motor control. Researchers posit that this impairment could be due to a deficit in utilizing the internal model control process. However, there is little neurological evidence to support this view because few neuroimaging studies have focused specifically on tasks involving online motor control. Therefore, the aim of this study was to investigate the differences in cortical hemodynamic activity during an online movement adjustment task between children with and without DCD. METHODS: Twenty children with DCD (mean age: 9.88 ± 1.67 years; gender: 14M/6F) and twenty age-and-gender matched children with typical development (TD) (mean age: 9.87 ± 1.59 years; gender: 14M/6F) were recruited via convenience sampling. Participants performed a double-step reaching task under two conditions (with and without online adjustment of reaching). Cortical hemodynamic activity during task in ten regions of interest, including bilateral primary somatosensory cortex, primary motor cortex, premotor cortex, superior parietal cortex, and inferior parietal cortex was recorded using functional near-infrared spectroscopy. In the analyses, change in oxyhemoglobin (ΔHbO) concentration was used to characterize hemodynamic response. Two-way analyses of variance were conducted for each region of interest to compare hemodynamic responses between groups and conditions. Additionally, Pearson's r correlations between hemodynamic response and task performance were performed. RESULTS: Outcome showed that children with DCD required significantly more time to correct their reaching movements compared to the control group (t = 3.948, P < 0.001). Furthermore, children with DCD have a significantly lower ΔHbO change in the left superior parietal cortex during movement correction, compared to children with TD (F = 4.482, P = 0.041). Additionally, a significant negative correlation (r = - 0.598, P < 0.001) was observed between the difference in movement time of reaching and the difference in ΔHbO between conditions in the left superior parietal cortex. CONCLUSIONS: The findings of this study suggest that deficiencies in processing real-time sensory feedback, considering the function of the superior parietal cortex, might be related to the impaired online motor control observed in children with DCD. Interventions could target this issue to enhance their performance in online motor control.

Occupational performance and participation in children with developmental coordination disorders before and during Covid-19.

INTRODUCTION: Developmental coordination disorder (DCD) is a neurodevelopmental disorder that affects children's occupational performance and participation. It is known that the Covid pandemic has adversely affected the whole world in many areas. We aim to investigate the occupational performance and participation of children with DCD before and during the COVID-19. METHODS: Sixty-five children aged 5-12 years included in the study were assessed by the Canadian Measure of Occupational Performance and the Participation and Environment Measure for Children and Youth. RESULTS: Statistically significant differences were detected in occupational performance and satisfaction scores (p < 0.01). Additionally, except for 'involvement in the home environment' (p > 0.05), there were statistically significant differences in all other areas of participation (p < 0.01). CONCLUSION: The occupational performance and participation of children with DCD are impacted during COVID-19. In addition, it is seen that the desire of families to change regarding participation has increased due to COVID-19. It would be beneficial to include strategies to improve these areas in the rehabilitation processes.

The effectiveness of exergames in improving physical activity behaviour and physical literacy domains in adolescents with developmental coordination disorder and cerebral palsy: A scoping review.

BACKGROUND: A large proportion of adolescents with developmental coordination disorder (DCD) are physically inactive. Physical literacy has been described as an important determinant in promoting health behaviours. The potential of exergames to improve physical literacy and activity has been recognized in typically developing children. The aim of the present scoping review was to identify and map the available evidence of this potential for adolescents with DCD. METHODS: A scoping review was performed via a literature search in PubMed, Web of Science, Embase, ERIC and CINHAIL. RESULTS: From 2860 search records, six studies (two studies in DCD and four studies in cerebral palsy [CP]) assessed physical activity, 12 studies discussed exergame features and 16 studies assessed physical literacy domains. In DCD, one study showed positive effects of exergaming on physical activity and the other failed to show any significant effects of exergaming. In CP, all four studies demonstrated positive effects of exergaming on energy expenditure and daily physical activity. Furthermore, positive effects of exergames on the different physical literacy domains were shown, namely motor competence, self-concept and affect, motivation and social/experiential. Finally, exergame features including multiplayer modes, realism, game rewards, challenges and enjoyment were shown to have a significant effect on motivating and encouraging adolescents to exert more effort while playing. CONCLUSION: Based on the positive effects of exergaming on physical activity in other populations, more in-depth research in adolescents with DCD is warranted such that the decline in physical activity behaviour that is present in individuals with DCD can be counteracted. Physical literacy should be regarded as an important determinant in this regard.

Diagnostic services for developmental coordination disorder: Gaps and opportunities identified by parents.

BACKGROUND: Affecting one in 20 children, Developmental Coordination Disorder (DCD) is a common neurodevelopmental disorder impacting a child's ability to learn motor skills. Despite its high prevalence, DCD is under-recognized and under-diagnosed, causing unnecessary frustration and stress for families who are seeking help for their child. This study aimed to understand how parents procure diagnostic services and their perspectives on needed supports and services to improve early identification and diagnosis of DCD. METHODS: Using a multi-pronged recruitment strategy, we circulated the impACT for DCD online questionnaire to parents of children (<18 years) in British Columbia with suspected or diagnosed DCD. Data were analysed descriptively using medians/interquartile ranges for continuous data and frequencies/percentages for categorical data. Open-ended questions were analysed using exploratory content analysis. RESULTS: A total of 237 respondent data were analysed. Parents identified poor awareness and understanding of health care professionals and educators regarding aetiology, symptomology, and impacts of DCD, affecting timely access to diagnostic services. Long waitlists were also a barrier that often led families with financial means to procure private diagnostic assessments. CONCLUSION: A standard of care is needed for streamlined diagnostic services, enabling early identification and early intervention. A publicly funded, family-centred, collaborative care approach is critical to assess, diagnose, and treat children with this disorder and to mitigate the secondary physical and mental health consequences associated with DCD.

Use of Virtual Reality in School-Aged Children with Developmental Coordination Disorder: A Novel Approach.

Virtual reality (VR) applications in paediatric rehabilitation are recent but promising. This brief report describes a VR rehabilitation program for a small sample of children with Developmental Coordination Disorder (DCD). The program focused explicitly on executive functions, a key area of concern for this population. It was conducted over 11 weeks in the CARE Lab. This lab was designed with appropriate structural characteristics and sophisticated technology to provide a rehabilitative setting with recreational and semi-immersive features. Before and after the VR training, the children were evaluated in terms of visual attention, inhibition, planning abilities, and visual-motor coordination. The rehabilitation programs were customised according to the clinical needs and the functional profile of each patient, proposing different games with variable complexity levels. These preliminary results showed a global and clinically significant change in executive functions, especially visual attention and inhibition skills. These findings suggest interesting implications for clinical practice, providing new information for professionals regarding the application of VR in the field of paediatric rehabilitation.

Reliability of Selected Health-Related Fitness Tests for Children With Developmental Coordination Disorder.

Aim: To quantify test-retest reliability and minimal detectable change for 90 and 95% confidence levels (90MDC, 95MDC) for health-related fitness tests in children with developmental coordination disorder (DCD). Methods: Lower limb muscle strength [hand-held dynamometry (HHD), unilateral heel rise test (UHRT), standing broad jump (SBJ)], muscle endurance [Muscle Power Sprint Test (MPST)] and cardiorespiratory endurance [20-metre Shuttle Run Test (20mSRT)] were evaluated twice (2-7 day interval) in 31 children with DCD (20 males, 9.4 years old ± 2.0). Results: Test-retest reliability was reported as intraclass correlation coefficient (ICC) (2, 1) 95% confidence interval lower bounds. Values were excellent for MPST (peak and mean power: 0.93, 0.95), good for HHD (0.81-0.88), SBJ (0.82), and the 20mSRT (0.87) and moderate for UHRT (0.74). For HHD, the 90MDC and 95MDC were the largest for hip extensors (14.47, 12.14 Nm) and the smallest for ankle dorsiflexors (1.55, 1.30 Nm). For UHRT, SBJ, MPST and the 20mSRT, these MDC values were 11.90, 9.98 repetitions; 25.49, 21.38 cm; 4.70, 3.94 W (mean power), and 6.45, 5.42 W (peak power) and 0.87, 0.73 (number of stages), respectively. Conclusion: These tests yield reliable test-retest results that can be used to evaluate fitness changes in this group.

OPTIMAL Motor Teaching Strategies Employed in Physiotherapy for Children with Developmental Coordination Disorder: An Observational Study.

AIMS: To describe the teaching strategies that physiotherapists currently employ in individual therapy sessions for children with DCD using the OPTIMAL theory for motor learning as a framework, focused on (1) autonomy (supporting autonomy vs. therapist-controlled), (2) expectancies (enhancing vs. lowering expectancies), and (3) attention (promoting an internal vs. an external focus of attention). METHODS: Eighteen physiotherapy sessions were videotaped and analyzed with Noldus The Observer XT using the OPTIMAL Strategies Observational Tool (OSOT). Relative duration (% of session time) and frequency were extracted for teaching strategies related to autonomy, expectancies, and attention. RESULTS: Physiotherapists mostly applied strategies to support autonomy and enhance expectancies in contrast to therapist-controlled strategies, and lowering expectancies. Strategies to promote either an internal or an external focus of attention were used to a similar extent. Furthermore, strategies were frequently combined; physiotherapists often employed more than one teaching strategy at a time. CONCLUSIONS: The insight into current physiotherapy teaching practice that this study provides can help inform research and application regarding effective motor teaching for children with DCD. Follow up studies are needed to further investigate how child and task characteristics influence teaching strategy employment and to examine physiotherapists' reasoning behind their choice of strategies.

Reliability of the Test of Gross Motor Development Third Edition Among Children with Developmental Coordination Disorder.

AIM: The Test of Gross Motor Development Third Edition (TGMD-3) is used to assess the development of fundamental movement skills in children from 3 to 10 years old. This study aimed to evaluate the intra-rater, inter-rater, and test-retest reliability and to determine the minimal detectable change (MDC) value of the TGMD-3 in children with developmental coordination disorder (DCD). METHODS: The TGMD-3 was administered to 20 children with DCD. The child's fundamental movement skills were recorded using a digital video camera. Reliability was assessed at two occasions by three raters using the generalizability theory. RESULTS: The TGMD-3 demonstrates good inter-rater reliability for the locomotor skills subscale, the ball skills subscale, and the total score (φ = 0.77 - 0.91), while the intra-rater reliability was even higher (φ = 0.94 - 0.97). Test-retest reliability was also shown to be good (φ = 0.79-0.93). The MDC95 was determined to be 10 points. CONCLUSION: This study provides evidence that the TGMD-3 is a reliable test when used to evaluate fundamental movement skills in children with DCD and suggests that an increase of 10 points represents a significant change in the motor function of a child with DCD.

Prevalence of suspected Developmental Coordination Disorder and its association with preterm and low birth weight in 5-10-year old children.

Background: Developmental Coordination Disorder (DCD) is a chronic neurodevelopmental disorder that results in difficulty in motor coordination observed in school-going children that interferes with classroom performance. Suspected DCD (S-DCD) children may show poor motor, as well as academic performance at school, and hence the present study aimed to find out the prevalence of S-DCD in children of age 5-10 years in central India and to find its association with preterm and/or low birth weight (LBW). Method: A total of 716 normal school-going children of age 5-10 years (both genders) were included in the study from four schools of the city by stratified sampling method. Children with any diagnosed neurological, orthopedic, rheumatologic, metabolic, cardiopulmonary, or psychological disorders were excluded. Data was collected using the parent-administered Developmental Coordination Disorder Questionnaire-2007 (DCDQ'07) and a parent/caregiver proforma. Children were sorted into three age subgroups (5-7.11 years, 8-9.11 years and 9-9.11 years). Result: Prevalence of S-DCD in 5-7.11 years (21.5%), 8-9.11years (23.9%) and is highest in 10-10.11 years (30.6%). Preterm children showed a higher prevalence of S-DCD (preterm: 29.54%, term: 23.10%). Children with LBW also showed a higher prevalence of S-DCD (30.15%) and among normal birth weight (21.43%). In children with both preterm and LBW history, the prevalence of suspected DCD was found to be 51.72%. Conclusion: Prevalence of suspected DCD was found to be 23.9% in the 5-10 years age group. It was also observed that S-DCD is strongly associated with preterm, as well as low birth weight in children of age 5-10 years.

A case with cardiac, skeletal, speech, and motor traits narrows the subtelomeric 19p13.3 microdeletion region to 46 kb.

Subtelomeric 19p13.3 deletions have been associated with diverse anatomical and developmental phenotypes. A recent study of eight patients with subtelomeric interstitial 19p13.3 microdeletions at 0.3-1.4 Mb (hg 19) showed associations with growth restrictions, skeletal deformities, craniofacial anomalies, congenital heart defects, renal malformations, hernias, immune system deficits, fine and gross motor delays, speech delays, and developmental and learning delays. The authors defined two small regions of overlap containing four and 11 genes, respectively, with potential haploinsufficiency. Here, we present a new case with a de novo 184 kb deletion containing eight genes, three of which fall into the second previously identified small region of overlap, reducing the shared region to 46 kb. Phenotypic traits include most of the core findings in the previously reported cases but not growth restrictions, craniofacial anomalies, renal malformation, and learning disability. A closer look at the speech and motor delays reveals apraxic speech and discoordination in the fine and gross motor domain, consistent with cerebellar involvement across motor systems. Findings are consistent with a role of AZU1 in the observed immune deficiencies and PTBP1 in the observed skeletal, abdominal, speech, language, motor, and sensory traits. This case thus contributes to a more nuanced understanding of the subtelomeric 19p13.3 deletion region.

A prospective 5-year longitudinal study detects neurocognitive and imaging correlates of seizure remission in self-limiting Rolandic epilepsy.

OBJECTIVE: Self-limiting Rolandic epilepsy (RE) is the most common epilepsy in school-age children. Seizures are generally infrequent, but cognitive, language, and motor coordination problems can significantly impact the child's life. To better understand brain structure and function changes in RE, we longitudinally assessed neurocognition, cortical thickness, and subcortical volumes. METHODS: At baseline, we recruited 30 participants diagnosed with RE and 24-healthy controls and followed up for 4.94 ± 0.8 years when the participants with RE were in seizure remission. Measures included were as follows: T1-weighted magnetic resonance brain imaging (MRI) with FreeSurfer analysis and detailed neuropsychological assessments. MRI and neuropsychological data were compared between baseline and follow-up in seizure remission. RESULTS: Longitudinal MRI revealed excess cortical thinning in the left-orbitofrontal (p = 0.0001) and pre-central gyrus (p = 0.044). There is a significant association (p = 0.003) between a reduction in cortical thickness in the left-orbitofrontal cluster and improved processing of filtered words. Longitudinal neuropsychology revealed significant improvements in the symptoms of developmental coordination disorder (DCD, p = 0.005) in seizure remission. CONCLUSIONS: There is evidence for altered development of neocortical regions between active seizure state and seizure remission in RE within two clusters maximal in the left-orbitofrontal and pre-central gyrus. There is significant evidence for improvement in motor coordination between active seizures and seizure remission and suggestive evidence for a decline in fluid intelligence and gains in auditory processing.