Significant Motor Delay Research Articles

The impact of severity of motor delay, timing of task mastery, and START-play intervention on the development of means-end problem solving in young children

BackgroundChildren with motor delays are at increased risk for delayed means-end problem-solving (MEPS) performance. ObjectivesTo evaluate children with motor delays: 1) the impact of motor delay severity and MEPS mastery timing on developmental trajectories of MEPS; and 2) the effectiveness of Sitting Together And Reaching To Play (START-Play) intervention for improving MEPS. MethodsThis represents a secondary analysis from a multi-site randomized controlled trial, with blinded assessors and prospective registration. Children with mild or significant motor delays (n = 112, mean age=10.80, SD=2.59 months at baseline) were randomly assigned to START-Play or usual care early intervention (UC-EI) and assessed at five visits across one year using the Means-End Problem-Solving Assessment Tool that included three 30-second MEPS trials per visit. Task mastery occurred at the first visit the child achieved the highest level of performance in at least two of the three trials. Multilevel analyses evaluated trajectories of MEPS outcomes dependent upon the timing of MEPS mastery, motor delay severity, and intervention group. ResultsAt baseline, children with mild motor delays demonstrated better MEPS than children with significant delays, but this difference was only observed for children who achieved mastery late. Children with significant delays demonstrated greater improvements in MEPS in the post-intervention phase compared to children with mild delays. No MEPS differences were found between START-Play and UC-EI. ConclusionMotor delay severity and timing of task mastery impacted MEPS trajectories, whereas START-Play intervention did not impact MEPS for children with motor delays. Clinical Trials Registry identifierNCT02593825 (https://clinicaltrials.gov/ct2/show/NCT02593825)

Exploring Suspected Pathogenicity of SETD5 Gene and Assessing the Impact of Speech and Physical Therapy Interventions: A Case Study Analysis with a Goal Attainment Scale Approach

Global developmental delay (GDD) is a heterogeneous condition characterized by delays in reaching developmental milestones during early childhood. Recent advancements in genetic research have underlined the role of genetic mutations in contributing to various neurodevelopmental disorders, including developmental delays (DD). One particular gene of interest, SETD5, has been associated with a distinct manifestation of developmental delay. Case description Through a case study approach, this study investigates the suspected pathogenicity of SETD5 gene mutations in a child who is 2 years and 5 months old and assesses the effectiveness of speech therapy and physical therapy interventions in a child with these mutations using the Goal Attainment Scale (GAS). Comprehensive clinical and developmental assessments such as Magnetic Resonance Imaging, Diffusion- Weighted Imaging, Magnetic Resonance Angiography, Whole exome sequencing (WES), Copy number analysis, Speech therapy assessment, and Physical therapy assessment were performed. Pre-intervention assessments revealed significant speech and motor delays. Post-Intervention GAS Scores revealed that the child displayed an average change of 32.8 and 32 in the areas of speech therapy and physical therapy, respectively. These scores signify a positive shift in outcomes for the broader objectives within speech therapy and physical therapy. Conclusions The findings of this study suggest that early diagnosis and interventions offer the potential in addressing speech and motor challenges linked to SETD5-related developmental disorders, improving the quality of life for those affected and their families. Keywords: Developmental delay, Global Developmental Delay, SETD5 gene mutation, Genetic counseling, Neurodevelopmental disorders, Speech therapy, Physical therapy, Goal Attainment Scale

Sitting Capacity and Performance in Infants with Typical Development and Infants with Motor Delay

Aims Infants with neuromotor disorders demonstrate delays in sitting skills (decreased capacity) and are less likely to maintain independent sitting during play than their peers with typical development (decreased performance). This study aimed to quantify developmental trajectories of sitting capacity and sitting performance in infants with typical development and infants with significant motor delay and to assess whether the relationship between capacity and performance differs between the groups. Methods Typically developing infants (n = 35) and infants with significant motor delay (n = 31) were assessed longitudinally over a year following early sitting readiness. The Gross Motor Function Measure (GMFM) Sitting Dimension was used to assess sitting capacity, and a 5-min free play observation was used to assess sitting performance. Results Both capacity and performance increased at a faster rate initially, with more deceleration across time, in infants with typical development compared to infants with motor delay. At lower GMFM scores, changes in GMFM sitting were associated with larger changes in independent sitting for infants with typical development, and the association between GMFM sitting and independent sitting varied more across GMFM scores for typically developing infants. Conclusions Intervention and assessment for infants with motor delay should target both sitting capacity and sitting performance.

Changes in the early communicative behaviors of young children with significant cognitive and motor developmental delays in a two-year span

IntroductionThis study examines longitudinal changes in communicative behavior of young children with significant cognitive and motor developmental delays (SDD) and determines their individual communicative trajectories. A second focus of this study is the relation of changes in communicative behavior with motor skills. MethodsData consists of codes resulting from a self-developed coding scheme used on observations of 23 children in three different settings and responses on a questionnaire. First, group trends were determined to find out whether communication-related variables tend to significantly change over the course of two years. Furthermore, these findings were contrasted with the individual trajectories of the children. Next, the association of initial communicative skills and (the acquisition of) specific motor skills with the change in their communicative functioning was studied. Wilcoxon Signed Ranks and correlational analyses were used to answer the research questions. ResultsOut of sixteen different variables related to communicative behavior, ten changed significantly over the course of two years. Children with more focus on prompt on the first datapoint showed a significantly larger increase of signs of functionality. Still, all children showed highly individual trajectories. Children with better motor skills on the first datapoint showed a significantly larger increase in communication rate. ConclusionsResults show that if a myriad of detailed variables are taken into account children with significant cognitive and motor developmental disabilities do change regarding their communicative functioning, but that they tend to all show unique developmental trajectories. Children with stronger skills in some aspects of communication and motor functioning, can be considered advantaged regarding their communicative development.

Hospitalized Infants With Medical Complexity Experience Slow Acquisition of Gross Motor Skills.

The progression of infant gross motor development during an acute hospitalization is unknown. Understanding gross motor skill acquisition in hospitalized infants with complex medical conditions is necessary to develop and evaluate interventions that may lessen delays. Establishing a baseline of gross motor abilities and skill development for these infants will guide future research. The primary purposes of this observational study were to: (1) describe gross motor skills of infants with complex medical conditions (n = 143) during an acute hospitalization and (2) evaluate the rate of change in gross motor skill development in a heterogenous group of hospitalized infants with prolonged length of stay (n = 45). Gross motor skills in hospitalized infants aged birth to 18 months receiving physical therapy were evaluated monthly using the Alberta Infant Motor Scale. Regression analysis was completed to assess rate of change in gross motor skills. Of the 143 participants, 91 (64%) demonstrated significant motor delay at initial evaluation. Infants with prolonged hospitalization (mean 26.9 ± 17.5 weeks) gained new gross motor skills at a significant rate of 1.4 points per month in Alberta Infant Motor Scale raw scores; however, most (76%) continued with gross motor delays. Infants with complex medical conditions admitted for prolonged hospitalization frequently have delayed gross motor development at baseline and have slower than typical acquisition of gross motor skills during hospitalization, gaining 1.4 new skills per month compared with peers acquiring 5 to 8 new skills monthly. Further research is needed to determine effectiveness of interventions designed to mitigate gross motor delay in hospitalized infants.

Transgenic mice overexpressing mutant TDP-43 show aberrant splicing of neurological disorders-associated gene Zmynd11 prior to onset of motor symptoms.

Mutations in TDP-43 are known to cause Amyotrophic Lateral Sclerosis (ALS) and Frontotemporal Dementia (FTD). TDP-43 binds to and regulates splicing of several RNA including Zmynd11 . Zmynd11 is a transcriptional repressor and a potential E3 ubiquitin ligase family member, known for its role in neuron and muscle differentiation. Mutations in Zmynd11 have been associated with autism with significant developmental motor delays, intellectual disability, and ataxia. Here, we show that Zmynd11 is aberrantly spliced in the brain and spinal cord of transgenic mice overexpressing a mutant human TDP-43 (A315T), and that these changes occur before the onset of motor symptoms.

Describing the communicative profiles of young children with a significant cognitive and motor developmental delay

The communicative behavior of young children with significant cognitive and motor developmental delays is generally considered to be limited, idiosyncratic and non-intentional. At present, changes between and within children over time regarding their communicative behavior are hard to detect. This article describes an exploratory observational study that draws on data from the first data point of 38 children who are participating in a longitudinal project on the developmental trajectories of children with significant cognitive and motor developmental delays. The aims of this study were to (a) describe the participants’ communicative behavior in detail with communication-related variables that reflect differences across individuals, (b) create summarizing variables and (c) explore whether subgroups of children can be detected. A self-developed coding scheme and descriptive statistics combined with correlational analyses were used, followed by a principal component analysis and visual inspection of the outcome of this analysis. The within-group differences related to communicative behavior was characterized using 16 variables. Based on these variables, three overarching components were formulated: communication proficiency, Expressions of Discomfort and Rejection and Differentiation According to Focus. All participating children were found to be unique in terms of their component scores and the relationship among their component scores.

The Effect of START-Play Intervention on Reaching-Related Exploratory Behaviors in Children with Neuromotor Delays: A Secondary Analysis of a Randomized Controlled Trial

Aims Children with neuromotor delays are at risk for reaching and object exploration impairments, which may negatively affect their cognitive development and daily activity performance. This study evaluated the effectiveness of the Sitting Together And Reaching To Play (START-Play) intervention on reaching-related exploratory behaviors in children with neuromotor delays. Methods In this randomized controlled clinical trial, 112 children (Mean = 10.80, SD = 2.59 months old at baseline) with motor delays were randomly assigned to receive START-Play intervention or usual care-early intervention. Performance for ten reaching-related exploratory behaviors was assessed at baseline and 1.5, 3, 6, 12 months post-baseline. Piecewise linear mixed-effects modeling was used to evaluate short- and long-term effects of the intervention. Results Benefits of START-Play were observed for children with significant motor delays, but not for those with mild delays. START-Play was especially beneficial for children with significant motor delays who demonstrated early mastery in the reaching assessment (i.e., object contact ≥65% of the time within 3 months after baseline); these children showed greater improvements in manual, visual, and multimodal exploration, as well as intensity of exploration across time. Conclusions START-Play advanced the performance of reaching-related exploratory behaviors in children with significant motor delays.

Early-Onset and Severe Complex Hereditary Spastic Paraplegia Caused by De Novo Variants in SPAST.

Familial hereditary spastic paraplegia (HSP)-SPAST (SPG4) typically presents with a pure HSP phenotype. The aim of this study was to delineate the genotypic and phenotypic spectrum of children with de novo HSP-SPAST. This study used a systematic cross-sectional analysis of clinical and molecular features. We report the clinical and molecular spectrum of 40 patients with heterozygous pathogenic de novo variants in SPAST (age range: 2.2-27.7 years). We identified 19 unique variants (16/40 carried the same recurrent variant, p.Arg499His). Symptom onset was in early childhood (median: 11.0 months, interquartile range: 6.0 months) with significant motor and speech delay, followed by progressive ascending spasticity, dystonia, neurogenic bladder dysfunction, gastrointestinal dysmotility, and epilepsy. The mean Spastic Paraplegia Rating Scale score was 32.8 ± 9.7 (standard deviation). These results confirm that de novo variants in SPAST lead to a severe and complex form of HSP that differs from classic familial pure HSP-SPAST. Clinicians should be aware of this syndrome in the differential diagnosis for cerebral palsy. © 2022 International Parkinson and Movement Disorder Society.

Novel GLRA1 Variants Causing Neonatal Arthrogryposis and Developmental Delay in Three Unrelated Cases. Early Signs of Autosomal Dominant Hyperekplexia

Hereditary hyperekplexia (HPX) is an inherited neuronal disorder characterized by exaggerated startle responses and stiffness to unexpected stimuli. In the newborn period, the phenotype may present as decreased range of motion of all joints, neonatal arthrogryposis or generalized neonatal hypertonia [1]. HPX is associated with three main genes: GLRA1, GLRB, and SLC6A5 [2]. We report three unrelated families with variants in the GLRA1 gene that expand the understanding of the clinical presentation of affected individuals with GLRA1 variants. No variants observed have been previously reported, two of them are familial and one a de-novo change. One of the families presents three generations of affected individuals with neonatal joint contractures. All three probands in this report present with significant developmental delay, speech delay, feeding difficulties, and motor delay. Hearing loss was seen in one of the patients. All patients appear to present with central hypotonia and two of them present with central hypotonia and peripheral hypertonia with hyperreflexia. Currently it has been suggested that GLRA1 dysfunction results in failure of inhibition of potent neurotransmitters in the central nervous system [3]. This may explain the intrauterine signs and perinatal presentation of neuromuscular dysfunction in the reported patients. We believe that the information presented here helps to understand the natural history of hyperekplexia. Early recognition of this rare disorder is important due to the high risk of sudden infant death in children due to apnea and the potential to implement rescue treatments. Based on these cases, patients with genetic variants in the GLRA1 gene may present with congenital arthrogryposis that improves with time and results in a milder form of distal joint contractures in adulthood. Patients with hyperekplexia may have a better prognosis than other forms of arthrogryposis and we suggest that GLRA1 gene testing should be included in neonatal arthrogryposis panels.

Comparative validity between the Canadian and the Dutch norms of the Alberta Infant Motor Scale in a preterm population.

Prematurity remains a leading cause of motor developmental delays. The Alberta Infant Motor Scales (AIMS) is a useful tool to easily assess motor development. However, during the last decade, cross-cultural differences have been identified regarding the original AIMS norms. Therefore, the aim of this study is twofold: confirm the validity of the AIMS in a preterm population and compare the new Dutch AIMS norms to the original Canadian ones in our Belgian population. Ninety-six preterm infants were assessed simultaneously on the AIMS and on the Bayley Scales of Infant-Toddler Development (Bayley-III) at age 9-14 months. Concurrent validity was evaluated by correlation analysis. Among these, 89 were assessed on the AIMS at age 3-6 months. Clinimetric properties of both AIMS norms were calculated to compare their ability to detect a motor delay on the Bayley-III at age 9-14 months. Pearson's coefficient showed an excellent level of correlation between the two scales (r = 0.91). At age 3-6 months, only the 10th Canadian centile showed acceptable properties to predict a significant motor delay. At age 9-14 months, the 5th centile of both norms showed good properties to diagnose a significant motor delay, while only the Canadian norms seems to be sensitive enough to diagnose a mild motor delay. The new Dutch norms seem to be less sensitive but more specific than the Canadian ones and therefore require adapted cut-offs to diagnose motor developmental delays in a preterm population.

Analysis of early expressive communicative behaviour of young children with significant cognitive and motor developmental delays

AbstractBackgroundRelated to the target group of young children with a significant cognitive and motor developmental delay, the aims of this study were to obtain more insight into (the interrelations between) several characteristics of these children's expressive communicative behaviour and to explore associations between child behaviour, partner behaviour and contextual factors.MethodsA coding scheme was specifically developed and used to code observational data of 38 children. Three different communication‐eliciting situations were video recorded. Potential communicative acts were detected, described, coded and counted within various coding categories. Data analysis mainly involved chi‐square tests in combination with Cramer's V and Friedman's two‐way analysis of variance by ranks.FindingsPotential communicative acts of young children with significant cognitive and motor developmental delay can be described in terms of focus, used modalities, level of initiative, communication complexity, signs of functionality and signs of emerging intentionality. The communicative focus of the children is mostly elicited by the prompt given by the communication partner and relates to certain behavioural modalities. Specific scaffolding behaviours of the partner are associated with the communication complexity of the children.ConclusionThis study provides some concrete suggestions on how to organise the interaction with these children.

Infant posture and caregiver-provided cognitive opportunities in typically developing infants and infants with motor delay.

Infants' developing motor skills-including mastery of new postures such as sitting and standing-affect opportunities for learning that facilitate cognitive development. But how infant posture affects caregiver behavior is largely unexplored. Moreover, we know little about effects of posture on learning opportunities in infants with motor delay. This study asked how infants with typical development and infants with significant motor delay use various postures during play, and whether posture is related in real time to caregiver-provided cognitive learning opportunities. Infants were videotaped five times over the course of a year in a free play session with a caregiver, starting when they demonstrated initial sitting skills. Posture and cognitive opportunities were coded moment-by-moment to assess duration and temporal overlap. We found that infants with typical development and infants with motor delay displayed similar use of postures initially, but infants with typical development demonstrated more mature postures over time. We also found that for both groups of infants, caregivers were most likely to provide cognitive opportunities when infants were sitting independently, and least likely when infants were supine. Our findings highlight the importance of upright sitting in typical and atypical infant development and suggest potential areas of intervention for infants with motor delay.

Lessons learned: A critical reflection on child- and contextual variables related to the development of children with a significant cognitive and motor developmental delay

BackgroundThe scientific study of young children with a significant cognitive and motor developmental delay is challenging due to the children’s complex disabilities and high demands on family life and professional support. We aim to critically reflect on the measurement and analysis of child- and contextual variables within an ongoing research project on these children’s developmental trajectories. MethodThe OJKO-project tracked the development of a sample of children (n = 45) between the age of 6 months and 4 years with a significant cognitive and motor developmental delay, in Belgium and the Netherlands. ResultsThe complexity of the children’s disabilities and daily life context, and subsequent challenges in measurement and analysis of variables, were confirmed and reflected upon. ConclusionsDue to the uniqueness and complexity of this target group, research should be characterized by creativity, perseverance and substantial modesty in the immediate generalization of results.

'We can't do it alone': Perceived social support in parents of children with a significant cognitive and motor developmental delay.

It is generally acknowledged that parent social support is an important target for intervention. To explore the specific needs of parents of young children with a significant cognitive and motor developmental delay (SDD), we aim to chart the sources and perceived sufficiency of the social support they receive. Within the context of a broader project, 42 parents of a young child with SDD filled out a questionnaire on contextual factors, including information on social support. The majority of parents reported to receive (more than) sufficient support. Insufficiency is primarily reported with regard to practical support. Apart from the partner, grandparents of the child were the most common source of support. This study confirms the importance of professional support and work-life balance within this specific target group. Specific attention for practical support needs seems warranted considering the high basic care needs of these children.

Motor Development in Children With Autism Spectrum Disorder.

Objective: This study was conducted to determine the gross and fine motor profiles of children with autism spectrum disorder compared to typically developing children. Additionally, we also assessed if the motor delay was more pronounced with increasing age.Method: This was a retrospective study involving children aged 12–60 months of age comparing motor development in children with autism spectrum disorder with typically developing children. Their developmental profile was assessed using Schedule of Growing Skills II. Descriptive statistics was used to analyse the developmental profile between the groups.Results: ASD children had significant gross motor (6.7%) and fine motor delay (38.5%) compared to typically developing children, who did not show any delay. The motor delay in ASD children was more prominent in older children.Conclusion: It is important to assess motor development in ASD children as there is significant motor delay in these children compared to typically developing children, and the delay becomes more prominent with age. Early detection of motor delay could allow provision of early intervention services to optimize developmental outcomes.

Systematic Modeling and Prompting to Teach Math Skills to Preschoolers With Disabilities

Early math skills predict later academic achievement and are of critical importance in preschool. There also are discrepancies in early math skills of preschoolers with disabilities compared with their typically developing peers. We used an experimental single-case research design, multiple probe across skills, to investigate the effectiveness of systematic modeling with mathematical language and a prompting procedure on increasing the early math skills of two preschoolers with disabilities or delays. A functional relation was observed for one participant. Equivocal findings may be due to the following: (a) challenges in assessing early math skills, which may have affected the identification of appropriate target skills, and (b) the involvement of multiple developmental domains in performing math skills, which may have affected the demonstration of target behaviors for the participant with significant fine motor and language delays.

Early motor skills predict the developmental trajectory of problem solving in young children with motor delays.

The purpose of this study was to quantify the relationship between early motor skills, such as sitting, and the development of problem-solving skills in children with motor delays. Motor (Gross Motor Function Measure) and problem-solving (Assessment of Problem-Solving in Play) skills of 134 children 7-16 months adjusted age at baseline with motor delay were assessed up to 5 times over 12 months. Participants were divided into two groups: mild and significant motor delay. Motor and problem-solving scores had large (r's=0.53-0.67) and statistically significant (p's>.01) correlations at all visits. Baseline motor skills predicted baseline and change in problem solving over time. The associations between motor and problem-solving skills were moderated by level of motor delay, with children with significant motor delay generally having stronger associations compared to those with mild motor delay. These findings suggest that overall baseline motor skills are predictive of current and future development of problem-solving skills and that children with significant motor delay have a stronger and more stable association between motor and problem-solving skills over time. This highlights that children with motor delays are at risk for secondary delays in problem solving, and this risk increases as degree of motor delay increases.

Changes in the social-emotional functioning of young children with a significant cognitive and motor developmental delay across a two-year period

Children with a significant cognitive and motor developmental delay (SDD) are vulnerable for the development of (future) behavioral and mental health problems. To support children within this target group, knowledge on their social-emotional development is necessary. Therefore, in this paper, an explorative assessment of the changes in the social-emotional functioning of children with SDD over a two-year period was done. Yearly semi-structured interviews with one or more primary caregiver(s) of 25 children were conducted and analyzed on 13 domains of social-emotional functioning, according to an adapted version of the Scale for Emotional Development - Revised (SED-R). This study showed a lot of variation in individual and group patterns of change across the two-year period. Charting the social-emotional development in this target group is challenging and requires further in-depth analysis of individual trajectories as well as more fine-grained and long-term data collection.

In search of a novel way to analyze early communicative behavior

The aim of this study was to develop a coding scheme that enables researchers and practitioners to conduct a detailed analysis of the communicative behavior of young children with significant cognitive and motor developmental delays. Currently, there is a paucity of methods to do conduct such an analysis. For the study, video observations of three different scenarios from 38 children with significant cognitive and motor developmental delays aged between 12 and 54 months, were used. Findings from the video observations served as the primary means for development of the coding scheme, which comprises three main categories – context, partner behavior, and individual behavior – and several subcategories. The coding scheme was used to document the early expressive communicative behavior of persons with significant cognitive and motor developmental delays in a detailed manner. This fine-grained information is necessary to differentiate children based on their communicative abilities, to monitor their communicative development longitudinally, and to inform person-centered communicative interventions.