Neurodevelopmental Clinic Research Articles

Utilization of Occupational and Physiotherapy Services in a Level 4 NICU and Neurodevelopment Follow-Up Clinics: a Quality Improvement Study

<h3>Research Objectives</h3> Neonates in the NICU are at risk of neuromotor & behavioral impairments & regular follow-up with multidisciplinary team can optimize the development. 1-30 Physiotherapy (PT) & Occupational therapy (OT) services are available in the Women's Wellness & Research Center (WWRC)'s NICU. Physicians should refer the neonates for appropriate service according to a criteria set. Baseline analysis of one-month data revealed that 25%, 36%, 62% & 10%; of eligible neonates were not referred to 1) inpatient OT, 2) inpatient PT, 3) baby therapy & 4) neonatal neurodevelopmental clinic respectively. The objective is to reduce the number of eligible neonates not being referred to 4 available therapy services to 50% of the baseline data after 1 month of implementation of the study <h3>Design</h3> A quality improvement study. <h3>Setting</h3> 112 bed, level 4 NICU in WWRC, Doha, Qatar. <h3>Participants</h3> All the neonates admitted to the NICU from Dec. 6, 2020 - Jan 2, 2021 <h3>Interventions</h3> A Plan Do Study Act (PDSA) cycle was used to guide the interventions. 1st phase identified stakeholders' challenges for not referring the babies to appropriate services. Based on their feedback, the referral criteria were revised. In the 2nd phase, the revised criteria were implemented. Steps included - a) education to all stakeholders on the revised criteria & making it available all the time, b) daily triage & huddle to inform stakeholders of the needed referrals, & c) establishing communication pathways. <h3>Main Outcome Measures</h3> The number of eligible neonates referred to 4 available therapy services one-month post-implementation of the study <h3>Results</h3> Exceeding our targets, all eligible & 75%; of the eligible neonates for neonatal neurodevelopmental & baby therapy clinics respectively were referred. For inpatient OT & PT services, 22%; (targeted 12.5%) & 20%; (targeted 18%) of the eligible neonates were missed. <h3>Conclusions</h3> Within 1 month, we decreased the number of non-referrals to all 4 therapy services. Inpatient PT & OT referrals need more focus to achieve the target. Communication strategies with the physicians need revision to achieve all the targets. <h3>Author(s) Disclosures</h3> Nothing to disclose.

Assessment of Pain and Sleep Symptoms in Children at High Risk for Cerebral Palsy in a Pediatric Neurodevelopmental Clinic: Implications for Future Quality Improvement Interventions

Children with cerebral palsy (CP) often experience distressing symptoms. It is estimated that 3 in 4 have chronic pain and 1 in 5 have a sleep disorder, with the highest frequency and severity occurring in children with the greatest impairment. Sleep impairment and pain can adversely impact activities, participation and quality of life; however, prevalence of these symptoms in children at risk for CP < 2 years of age remain unknown. The objective of this project was to develop a baseline understanding of the presence of sleep and pain symptoms among children <2 years at high risk for CP to establish a baseline estimate for future quality improvement initiatives. A retrospective chart review was performed on a convenience sample of 50 children <2 years of age that were determined to be high risk for CP. This was determined through a standardized Hammersmith Infant Neurological Evaluation (HINE) global score of less than 56 performed as part of routine care. Descriptive statistics were used to explore the sample. A nonparametric test was used to evaluate the differences between groups. Pain and sleep problems were frequently reported in our sample (38% sleep problems and 32% pain). There were also significant differences between reported symptoms and the HINE. Reported symptoms were associated with lower HINE scores. Sleep and pain are frequent symptoms in children at risk for cerebral palsy. Early identification of these symptoms can lead to clinic-level intervention which may include pharmacological and non-pharmacological management strategies that improve outcomes for children at high risk for CP.

Medical comorbidities of patients presenting to an adult neurodevelopmental new case clinic in Singapore

AimsTo describe the occurrence of medical comorbity in patients with neurodevelopmental disorders presenting to the Adult Neurodevelopmental Service (ANDS) multi-disciplinary new case clinic at the Institute of Mental Health (IMH) in Singapore. We hypothesize that patients with neurodevelopmental disorders have higher rates of medical comorbidity compared to those without a diagnosis of neurodevelopmental disorder.BackgroundMedical comorbidities are common in patients with neurodevelopmental disorders. They may have difficulties managing their medical conditions which could in turn affect their well being, quality of life and life expectancy.MethodA retrospective cohort study was conducted amongst patients who presented to the clinic from January 2015 to December 2016. The electronic case records of the assessments were de-identified and the medical conditions of patients were collected and analysed.Result319 patients attended the ANDS new case clinic in the 2-year study period. 87.1% (278/319) were diagnosed with a neurodevelopmental disorder while 12.9% (41/319) did not receive any diagnosis of a neurodevelopmental disorder.58.3% (162/278) of patients with a neurodevelopmental disorder had at least 1 medical comorbidity while only 31.7% (13/41) of patients with no neurodevelopmental disorder had at least 1 medical condition.Patients with neurodevelopmental disorders had higher rates of epilepsy (12.2% vs 4.9%), cerebral palsy (3.2% vs 0%) but lower rates of having other neurological conditions (1.4% vs 7.3%) compared to those with no neurodevelopmental disorders.Patients with neurodevelopmental disorders had higher rates of diabetes (6.1% vs 2.4%), hypertension (6.1% vs 2.4%), hyperlipidaemia (7.1% vs 2.4%) and cardiovascular conditions (2.9% vs 0%) than those without a neurodevelopmental disorder.In terms of other medical comorbidities, patients with neurodevelopmental disorders had higher rates of thyroid abnormalities (4.7% vs 2.4%), respiratory problems (7.6% vs 2.4%), musculoskeletal conditions (5.8% vs 0%), eye issues (5% vs 2.4%) and hearing problems (2.9% vs 0%) but similar rates of dermatological conditions (10.1% vs 9.8%) and gastrointestinal conditions (4.7% vs 4.9%) compared to those with no neurodevelopmental disorders.ConclusionPatients with neurodevelopmental disorders have significantly highly rates of medical comorbidity than those without any neurodevelopmental disorders. This study highlights the need to raise awareness of the common medical comorbidities in patients with neurodevelopmental disorders and to ensure adequate screening and referral for follow-up medical care for them.

RELATIONSHIP BETWEEN SERUM FERRITIN LEVEL AND ATTENTION DEFICIT HYPERACTIVITY DISORDER IN CHILDREN ATTENDING ALEXANDRIA UNIVERSITY CHILDREN'S HOSPITAL

Attention-deficit/hyperactivity disorder (ADHD) is the most common neurobehavioral disorder in childhood. Its prevalence in children and adolescents is around 5.3% worldwide. ADHD is characterized by persistent patterns of inattention, hyperactivity and impulsivity that affects multiple domains of life cause significant functional impairment.ADHD imposes various kinds of pressures on families and communities. ADHD is attributed to the interplay of social, environmental, neurobiological, and genetic factors. Iron is essential for many important biological processes. It functions as a cofactor in the metabolism of many neurotransmitters like dopamine. Its deficiency plays a role in ADHD pathogenesis. Serum ferritin is a reliable indicator of iron storage in tissues such as the brain.We aimed to study serum ferritin levels in children with ADHD, and the relationship between it and the severity of the disease.This case-control study was conducted on (100) children aged from six to twelve years (50 children diagnosed with ADHD based on DSM-5 diagnostic criteria and were recruited from Pediatric Neurodevelopmental outpatient clinic of Alexandria University Children Hospital Smouha and 50 sex and age-matched siblings of group I who are not fulfilling the DSM-5 diagnostic criteria of ADHD as a controls group II).

Assessing the Effects of Rare Copy Number Variants on Psychiatric Symptoms and Cognitive Ability in 1M Individuals

Rare Copy Number Variants (CNVs) have the highest relative risks among identified genetic variants contributing to mental illness. However, our understanding of the impact of CNVs on psychiatric symptomatology and neurocognitive ability is limited in at least three ways. First, the effects sizes of the vast majority of CNVs on neuropsychiatric phenotypes remain poorly understood. Prior studies concentrated on the most recurrent CNVs, leaving more than 90% of these variants undocumented. Second, for CNVs frequent enough to be studied individually, the full spectrum of phenotypic variation is unknown because ascertainment has been performed through neurodevelopmental and specialty clinics, which presumably represent the severe end of the phenotypic spectrum. Few studies have been conducted in unselected populations. Finally, many CNVs seem to impact the same neuropsychiatric domains, suggesting a poly/omnigenic model for psychiatric symptomatology and neurocognitive ability.

ASSOCIATION OF PERINATAL RISK FACTORS WITH AUTISM SPECTRUM DISORDER: A RETROSPECTIVE STUDY AT TERTIARY CARE CENTRE, MUMBAI

Background: Autism spectrum disorder (ASD) is a complex neurodevelopmental condition, which is characterized by cognitive, behavioral, and social dysfunction. Their onset occurs in early childhood and during this period, there are various factors associated with autism risk. Hence,the present study was undertaken to determine the prevalence of various perinatal risk factors and its association with ASD in children. Methods: This was a retrospective study, included 200 cases of ASD over 5 years registered in pediatric neurodevelopment clinic at TN Medical College and BYL Nair Hospital, Mumbai. Study population divided in two groups- cases of ASD with perinatal risk factor and cases of ASD without perinatal risk factor. The prevalence of various perinatal risk factors in children with different grades of ASD calculated. Results: Based on ISAA score 149(74.5%) cases had mild autism and 51(25.5%) cases had moderate autism. The prevalence of various perinatal risk factors in children with different grades of ASD was found to be 79.5%(159/200). Pregnancy induced hypertension, bad obstetric history in mother were signicant risk factor for ASD. Lower segment caesarian section as mode of delivery was risk factor found to be associated more with mild form of autism, but statistically signicant association was found with vacuum delivery. We observed prematurity, low birth weight (LBW) and neonatal seizures as signicant risk factor, which may have contribution towards pathogenesis of ASD. Conclusion: The awareness between pediatrician and obstetrician about association of perinatal risk factors and ASD will denitely add to prevention and timely intervention of high risk patients.

Neurologic Outcomes in Neonates Following the Introduction of a Restrictive Transfusion Guideline

Objective: To evaluate the neurodevelopmental outcomes of very low birthweight (VLBW) infants before and after the introduction of a restrictive transfusion guideline. Study design: This is a large retrospective study comparing neurodevelopmental outcomes before and after a restrictive transfusion guideline (RTG) was established for VLBW infants admitted to a large single neonatal intensive care unit (NICU). Bayley-III scores obtained from routine NICU follow up appointments at pediatric neurodevelopmental clinics were evaluated. The mean age of obtaining the Bayley-III score was 20.3 months with a standard deviation of +/- 5.2 months. Results: Neurodevelopmental outcomes measured by Bayley-III scores, were similar for cognitive, language, and motor testing in the RTG versus LTG groups. In addition, the subcategories for normal, mild delay, moderate delay and severely delayed were also similar. Conclusion: RTG is safe in the neonatal VLBW population. RTG when compared to liberal transfusion guideline (LTG) is associated with similar neurodevelopmental outcomes as defined by Bayley-III scores.

Neurodevelopmental Pediatrics in Portugal: Hospital Patient Volume, Resources and Needs - Changes After Ten Years

Neurodevelopmental disorders are, in modern societies, the most common chronic pediatric conditions. Many remain in adulthood. Organizing the national health care network to respond efficiently and effectively requires grounded knowledge of care needs. The Neurodevelopmental Pediatrics Society of the Portuguese Society of Pediatrics in order to know the current hospital care reality of Neurodevelopmental Pediatrics, carried out a national survey in 2007, repeating it ten years later. Material e Methods: In the 2016-2017 biennium, a survey of 45 hospital units was conducted on the patient volume of Neurodevelopmental clinics, the allocation of human resources, and the needs for professional reinforcement. We obtained a 100% response rate. The total number of Neurodevelopmental Pediatrics consultations rose from 38 238 (2007) to 99 815 (2017). The number of professionals has also increased: pediatricians increased from 82 to 156. A median of 101 children were awaiting first consultation, compared with 185 in 2007. In a decade, the patient volume almost tripled. The reinforcement of professionals, even though it was beneficial, did not increase accordingly; even so, the number of children on the waiting list for their first appointment has almost halved, reflecting the commitment of professionals. It is noteworthy that the overall improvement of the national response in the area of Neurodevelopmental Pediatrics is remarkable. However, the requested reinforcement of human resources from a multidisciplinary perspective should not be neglected in view of the continuous improvement in care delivery in an area of great chronicity and complexity.

Association between engagement in physical activity and adaptive behavior in young children with Autism Spectrum Disorder

This study explored whether frequency of engagement in physical activity (PA) was associated with differences in adaptive behavior (i.e., communication, socialization, daily living, and motor skills) among young children recent diagnoses of Autism Spectrum Disorder (ASD). A total of 118 children (32 ± 4 months; 72% boys) underwent physician specialist's evaluation at a university-based neurodevelopmental clinic, alongside their parent (35 ± 7 years; 81% mothers). Children were assessed using the Autism Diagnostic Observation Schedule, Mullen Scales of Early Learning, Vineland Adaptive Behavior Scales, and a physician examination. Parents completed the Weekly Physical Activity Checklist for their child, as well as a self-report depression and demographic questionnaire. After controlling for known confounders, there was a small positive association between frequency of engagement in PA and adaptive behavior (Cohen's d = 0.36, 95%CL = ±0.32) (p = 0.027). There was also a small positive association between PA and three of the four subdomains of adaptive behavior: socialization (d = 0.32, 95%CL ±0.27) (p = 0.018), daily living (d = 0.29, 95%CL ±0.25) (p = 0.026), and motor skills (d = 0.31, 95%CL ±0.29) (p = 0.038). Frequency of engagement in PA was not statistically significantly associated with children's communication skills (d = 0.09, 95%CL ±0.29) (p = 0.547). Children with ASD often exhibit delays in adaptive functioning. The associations between PA and adaptive skills observed in our study signals the potential contribution of increased PA as part of early intervention for children with such neurodevelopmental disorders to achieve greater functional outcomes.

The Acceptability and Efficacy of Electronic Data Collection in a Hospital Neurodevelopmental Clinic: Pilot Questionnaire Study.

BackgroundThere is a growing need for cost-efficient and patient-centered approaches to support families in hospital- and community-based neurodevelopmental services. For such purposes, electronic data collection (EDC) may hold advantages over paper-based data collection. Such EDC approaches enable automated data collection for scoring and interpretation, saving time for clinicians and services and promoting more efficient service delivery.ObjectiveThis pilot study evaluated the efficacy of EDC for the Child Development Unit, a hospital-based diagnostic assessment clinic in the Sydney Children’s Hospital Network. Caregiver response rates and preference for EDC or paper-based methods were evaluated as well as the moderating role of demographic characteristics such as age, level of education, and ethnic background.MethodsFamilies were sent either a paper-based questionnaire via post or an electronic mail link for completion before attending their first on-site clinic appointment for assessment. A total of 62 families were provided a paper version of the questionnaire, while 184 families were provided the online version of the same questionnaire.ResultsCompletion rates of the questionnaire before the first appointment were significantly higher for EDC (164/184, 89.1%) in comparison to paper-based methods (24/62, 39%; P<.001). Within the EDC group, a vast majority of respondents indicated a preference for completing the questionnaire online (151/173, 87.3%), compared to paper completion (22/173, 12.7%; P<.001). Of the caregiver demographic characteristics, only the respondent’s level of education was associated with modality preference, such that those with a higher level of education reported a greater preference for EDC (P=.04).ConclusionsThese results show that EDC is feasible in hospital-based clinics and has the potential to offer substantial benefits in terms of centralized data collation, time and cost savings, efficiency of service, and resource allocation. The results of this study therefore support the continued use of electronic methods to improve family-centered care in clinical practices.

Fracasso escolar: naturalização ou construção histórico-cultural?

This study aimed to investigate whether school failure is still naturalized. For such, the social, educational, emotional and neurological profiles of children attended to by the Extension Project “Assessment and Intervention in Children with School Failure history”, developed at a Neurodevelopment Clinic, were outlined. The medical records of 13 children were analyzed, and the SPSS Statistics 22.0 software was used. The children averaged 10.3 years, most of whom (84.6%) were male. Most children (61.5%) had complaints related to learning and behavioral problems and were prescribed psychostimulants. The population covered by the project showed characteristics which were consistent with those described by other studies in institutions such as school clinics in different parts of Brazil. It was also found that students are still held responsible for failure, to which a biological character has been attributed, hence the need for medicalization. This research demonstrated the need for further studies to investigate how school failure complaints are established.

Family-Centered Care Coordination in an Interdisciplinary Neurodevelopmental Evaluation Clinic: Outcomes From Care Coordinator and Caregiver Reports.

Children with neurodevelopmental disabilities experience many unmet healthcare needs. Care coordination is one critical solution to addressing the substantial strain on families, local communities, and the larger healthcare system. The purpose of this study was to implement a care coordination program in an interdisciplinary pediatric neurodevelopmental evaluation clinic and examine care coordinator and caregiver outcomes. Following neurodevelopmental diagnosis, children were provided with either care coordination (CC) or care as usual (CAU). For those receiving CC, the care coordinator documented family goals and care coordination activities, outcomes, and time spent. Caregivers in both groups completed a survey measuring access to needed services and caregiver stress and empowerment following their child's evaluation (T1) and 4–6 months post-evaluation (T2). Care coordinator findings demonstrated that over 85% of family goals focused on understanding the child's diagnosis, getting needed interventions and educational support, and accessing healthcare financing programs. More than half of care coordination activities were spent on engaging and educating the family; similarly, the most time-consuming care coordination efforts were in helping families understand their child's diagnosis and meeting family's basic needs. For those children referred to needed services, 54% were enrolled in one or more service at T2. Caregivers in both the CC and CAU groups reported an increase in stress related to interactions with their child as well as increased empowerment from T1 to T2. Contrary to our hypotheses, there were no significant group-by-time interactions across caregiver-report measures. While these findings further our understanding of care coordination delivery, they diverge from previous evidence demonstrating care coordination efficacy. This study paves the way for future opportunities to evaluate what kinds of care coordination supports family need at varying times in their child's healthcare journey and how the outcomes important to all stakeholders are measured to reflect true evaluation of efficacy.

Variations in practice in cardiac neurodevelopmental follow-up programs.

Over the last two decades, heart centres have developed strategies to meet the neurodevelopmental needs of children with congenital heart disease. Since the publication of guidelines in 2012, cardiac neurodevelopmental follow-up programmes have become more widespread. Local neurodevelopmental programmes, however, have been developed independently in widely varying environments. We sought to characterise variation in structure and personnel in cardiac neurodevelopmental programmes. A 31-item survey was sent to all member institutions of the Cardiac Neurodevelopmental Outcome Collaborative. Multidisciplinary teams at each centre completed the survey. Responses were compiled in a descriptive fashion. Of the 29 invited centres, 23 responded to the survey (79%). Centres reported more anticipated neurodevelopment visits between birth and 5 years of age (median 5, range 2-8) than 5-18 years (median 2, range 0-10) with 53% of centres lacking any standard for routine neurodevelopment evaluations after 5 years of age. Estimated annual neurodevelopment clinic volume ranged from 85 to 428 visits with a median of 16% of visits involving children >5 years of age. Among responding centres, the Bayley Scales of Infant and Toddler Development and Wechsler Preschool and Primary Scale of Intelligence were the most routinely used tests. Neonatal clinical assessment was more common (64%) than routine neonatal brain imaging (23%) during hospitalisation. In response to clinical need and published guidelines, centres have established formal cardiac neurodevelopment follow-up programmes. Centres vary considerably in their approaches to routine screening and objective testing, with many centres currently focussing their resources on evaluating younger patients.

Early detection of cerebral palsy in high-risk infants: Translation of evidence into practice in an Australian hospital.

The early diagnosis of cerebral palsy (CP) allows children timely access to early intervention. In 2018, Monash Children's Hospital established an Early Neurodevelopment Clinic based upon evidence-based guidelines for the early diagnosis of CP in high-risk infants. In this study, we aimed to characterise the infants presenting to the clinic and determine the rate of CP diagnosis. This study analysed data from infants attending the Early Neurodevelopment Clinic between May 2019 and April 2020. Infants at high-risk for CP attended the clinic at 3 months corrected age. Neuroimaging reports were reviewed, and a Prechtl's General Movement Assessment and Hammersmith Infant Neurological Examination were performed. Infants were diagnosed as having typical development, delayed development, high-risk of CP or CP at the time of clinic attendance and referred on to the appropriate pathway. Ninety-six high-risk infants attended the clinic over the 1 year study period. Sixty-eight (71%) infants were extremely preterm or extremely low birthweight, and 28 (29%) were infants at born at older gestation with evidence of moderate to severe brain injury. Nine (9.6%) infants received a CP diagnosis and 12 (12.5%) were considered high-risk of CP. All infants with CP or high-risk of CP were referred to the Victorian Paediatric Rehabilitation Service. It is feasible to implement the early CP diagnosis guidelines into a high-risk infant follow-up clinic. Implementation of the guidelines allows for early diagnosis of CP and appropriate referral of high-risk infants.

Reducing time between referral and diagnosis in paediatric outpatient neurodevelopmental and behavioural clinics.

This study investigated the impact of a transdisciplinary advanced allied health practitioner (AAHP) in a public hospital general paediatric outpatient department for children referred for concerns with neurodevelopment, learning and/or behaviour. It was hypothesised that time from referral to initial consultation and diagnosis was reduced for children initially assessed by AAHP. It was also hypothesised that children seen by AAHP were less likely to require a medical specialist appointment. De-identifiable data were gathered from hospital records both retrospectively and prospectively for each group. Data were collected from: 75 children who attended a medical consultation only clinic in 2014; 75 children who attended an AAHP clinic and a medical officer in 2014 and 75 children who attended an AAHP clinic and a medical officer 2 years after establishment in 2016/2017. On average, 52% children were managed independently by the AAHP. Wait time from referral to consultation significantly decreased from 169 days to 48 days. Similarly, time from referral to diagnosis significantly reduced by almost a half, from 57.2 to 30.59 weeks. This study provides preliminary evidence that utilisation of transdisciplinary AAHPs in general paediatric outpatient departments may reduce waitlists, reduce amount of medical specialist appointments required and provide earlier diagnosis for children with neurodevelopmental, behavioural and/or learning difficulties.

Is cognitive inflexibility a missing link? The role of cognitive inflexibility, alexithymia and intolerance of uncertainty in externalising and internalising behaviours in young people with autism spectrum disorder.

Internalising (anxiety and low mood) and externalising (aggressive or outburst behaviours, and irritability) difficulties are very common in autism spectrum disorder (ASD) across the life span, relatively stable over time and often associated with poorer quality of life. Understanding the cognitive mechanisms underlying internalising and externalising difficulties in ASD is essential for developing targeted supports and interventions. In the present study, we investigated established and less-researched cognitive factors hypothesised to contribute to internalising and/or externalising difficulties in ASD, namely cognitive inflexibility (CI), intolerance of uncertainty (IU) and alexithymia. Based on previous models and clinical experience, we hypothesised that IU would lead to internalising symptoms, with alexithymia contributing to this pathway, and that CI would have a direct effect on externalising behaviours and may indirectly contribute to internalising symptoms via increasing IU. Our sample consisted of 95 5- to 18-year-olds presenting to a specialist neurodevelopmental clinic and receiving a diagnosis of ASD. Parents/caregivers completed questionnaires assessing ASD symptomatology, internalising and externalising difficulties, CI, IU and alexithymia. Structural equation modelling was used to examine the hypothesised pathways and relationships between the main variables of interest. Cognitive Inflexibility played a significant direct role in the pathway from ASD symptoms to externalising symptoms in ASD, and indirect role via IU in the pathway to internalising problems. Relationships between alexithymia and both internalising and externalising symptoms were weaker, with alexithymia predicting internalising difficulties via IU only. The finding of a direct pathway from CI to externalising behaviours is novel, as is the indirect role of CI in internalising symptomatology. Of the three cognitive mechanisms examined, only CI significantly predicted externalising symptoms. Possible implications for interventions and supports targeting these cognitive processes in ASD are discussed.

General Movement Assessment Predicts Neuro-Developmental Outcome in Very Low Birth Weight Infants at Two Years - A Five-Year Observational Study.

To assess the value of general movements (GMs) in predicting the neurodevelopmental outcome using Bayley Scale of Infant Development III (BSID-III) at two years of age in very low birth weight (VLBW) infants. This is a five-year observational study (January 2012-June 2017). Two hundred twenty-seven VLBW infants were assessed in the neurodevelopmental clinic between Jan 2012 and June 2017. Of these 137 infants had GMs assessments at 3 mo post term (first visit to the clinic). Absence of fidgety movements (FMs) at 3 mo post term had high specificity and negative predictive value for moderate to severe neurodevelopmental outcome in motor, cognition and language domains (composite score less than 70 in the Bayley III scales of Infant development scores). At 3 mo post term, absent FMs had high sensitivity, specificity and negative predictive value (NPV) for cerebral palsy (CP). GMs assessment at 3 mo post term could be considered as an important screening tool for early identification of VLBW infants who are at risk of neurodevelopmental impairment/cerebral palsy.

Association of congenital cardiovascular malformation and neuropsychiatric phenotypes with 15q11.2 (BP1\u2013BP2) deletion in the UK Biobank

Deletion of a non-imprinted 500kb genomic region at chromosome 15q11.2, between breakpoints 1 and 2 of the Prader–Willi/Angelman locus (BP1–BP2 deletion), has been associated in previous studies with phenotypes including congenital cardiovascular malformations (CVM). Previous studies investigating association between BP1–BP2 deletion and CVM have tended to recruit cases with rarer and more severe CVM phenotypes; the impact of CVM on relatively unselected population cohorts, anticipated to contain chiefly less severe but commoner CHD phenotypes, is relatively unexplored. More precisely defining the impact of BP1–BP2 deletion on CVM risk could be useful to guide genetic counselling, since the deletion is frequently identified in the neurodevelopmental clinic. Using the UK Biobank (UKB) cohort of ~500,000 individuals, we identified individuals with CVM and investigated the association with deletions at the BP1–BP2 locus. In addition, we assessed the association of BP1–BP2 deletions with neuropsychiatric diagnoses, cognitive function and academic achievement. Cases of CVM had an increased prevalence of the deletion compared with controls (0.64%; OR = 1.73 [95% CI 1.08–2.75]; p = 0.03), as did those with neuropsychiatric diagnoses (0.68%; OR = 1.84 [95% CI 1.23–2.75]; p = 0.004). We conclude that BP1–BP2 deletion moderately increases the risk of the generally milder, but commoner, CVM phenotypes seen in this unselected population, in addition to its previously demonstrated association in case/control studies ascertained for CVM.

General Movement Assessment from videos of computed 3D infant body models is equally effective compared to conventional RGB video rating

BackgroundGeneral Movement Assessment (GMA) is a powerful tool to predict Cerebral Palsy (CP). Yet, GMA requires substantial training challenging its broad implementation in clinical routine. This inspired a world-wide quest for automated GMA. AimsTo test whether a low-cost, marker-less system for three-dimensional motion capture from RGB depth sequences using a whole body infant model may serve as the basis for automated GMA. Study designClinical case study at an academic neurodevelopmental outpatient clinic. SubjectsTwenty-nine high risk infants were assessed at their clinical follow-up at 2–4 month corrected age (CA). Their neurodevelopmental outcome was assessed regularly up to 12–31 months CA. Outcome measuresGMA according to Hadders-Algra by a masked GMA-expert of conventional and computed 3D body model (“SMIL motion”) videos of the same GMs. Agreement between both GMAs was tested using dichotomous and graded scaling with Kappa and intraclass correlations, respectively. Sensitivity and specificity to predict CP at ≥12 months CA were assessed. ResultsAgreement of the two GMA ratings was moderate-good for GM-complexity (κ = 0.58; ICC = 0.874 [95%CI 0.730; 0.941]) and substantial-good for fidgety movements (FMs; Kappa = 0.78, ICC = 0.926 [95%CI 0.843; 0.965]). Five children were diagnosed with CP (four bilateral, one unilateral CP). The GMs of the child with unilateral CP were twice rated as mildly abnormal with FMs. GM-complexity and somewhat less FMs, of both conventional and SMIL motion videos predicted bilateral CP comparably to published literature. ConclusionsOur computed infant 3D full body model is an attractive starting point for automated GMA in infants at risk of CP.

Neurodevelopmental Outcomes in Extracorporeal Membrane Oxygenation Patients: A Pilot Study.

In this pilot study, we evaluated the long-term neurodevelopmental outcomes in neonatal and pediatric patients supported by extracorporeal membrane oxygenation (ECMO) and aimed to identify the role of post-ECMO magnetic resonance imaging (MRI) in predicting neurodevelopmental outcomes. Twenty-nine patients were evaluated using the Ages and Stages Questionnaire, Third Edition (ASQ-3) screening tool. Thirteen were evaluated during their visit at the neurodevelopmental clinic and 16 were interviewed via phone. We also reviewed the post-ECMO MRI brain of these patients and scored the severity of their injury based on the neuroimaging findings. In our cohort of 29 patients, 10 patients (34%) had developmental delay. Of those with developmental delay, 80% were newborns. Sixty-seven percent of patients with developmental delay had moderate to severe MRI abnormalities as compared with only 18% with no developmental deficits (p = 0.03). The younger the age at the time of placement on ECMO, the higher the chances of impaired neurodevelopmental outcome. Long-term follow-up of patients who have survived ECMO, with standardized neuropsychologic testing and post-ECMO imaging, should become the standard of care to improve long-term outcomes. Significant abnormalities on brain MRIs done before discharge correlated with developmental delay on follow-up.