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Amidst the ongoing novel Coronavirus disease pandemic, children with developmental disabilities warrant specific attention to minimise having disproportionate consequences. These children are especially vulnerable to the effects of the pandemic due to (1) Greater healthcare needs, (2) Dependency on community-based services and (3) Mental health concerns. Healthcare professionals, public health systems and the society needs to come together to advocate for these children by optimising access to healthcare and community intervention services, promoting mental well-being and caregiver welfare. The consequences of missed present-day opportunities might only be evident in the years to come in these children. Hence, despite the prolonged pandemic, with consequent limitations in availability of resources, children with developmental disabilities should continue to be supported.

To compare gastrointestinal (GI) problems among children with: (1) autism spectrum disorder (ASD), (2) developmental delay (DD) and (3) typical development (TD), GI symptom frequencies were obtained for 960 children from the CHildhood Autism Risks from Genetics and Environment (CHARGE) study. We also examined scores on five Aberrant Behavior Checklist (ABC) subscales comparing ASD children with high versus low frequency GI symptoms. Compared to TD children, those with ASD [aOR 7.92 (4.89–12.85)] and DD [aOR 4.55 (2.51–8.24)] were more likely to have at least one frequent GI symptom. Restricting to ASD children, those with frequent abdominal pain, gaseousness, diarrhea, constipation or pain on stooling scored worse on irritability, social withdrawal, stereotypy, and hyperactivity compared with children having no frequent GI symptoms. Frequent GI problems affect young children with ASD and DD more commonly than those with TD. Maladaptive behaviors correlate with GI problems, suggesting these comorbidities require attention.

Little is known about how organ growth is monitored and coordinated with the developmental timing in complex organisms. In insects, impairment of larval tissue growth delays growth and morphogenesis, revealing a coupling mechanism. We carried out a genetic screen in Drosophila to identify molecules expressed by growing tissues participating in this coupling and identified dilp8 as a gene whose silencing rescues the developmental delay induced by abnormally growing tissues. dilp8 is highly induced in conditions where growth impairment produces a developmental delay. dilp8 encodes a peptide for which expression and secretion are sufficient to delay metamorphosis without affecting tissue integrity. We propose that Dilp8 peptide is a secreted signal that coordinates the growth status of tissues with developmental timing.

IntroductionGlobal developmental delay (GDD) affects 1%–3% of the population of children under 5 years of age, making it one of the most common conditions presenting in paediatric clinics; causes are exogenous, genetic (non-metabolic) or genetic (metabolic). Recent advances in biotechnology and genetic testing mean that the investigations available to perform for children under 5 years are increasing and are more sensitive than previously. This change in availability and type of testing necessitates an update in the recommendations for investigating GDD.MethodsWe conducted a review of the literature from 2006 to 2016 to identify articles with evidence relating to the investigation of developmental delay in children under the age of 5 years. We collated the evidence into first-line and second-line investigations and, where available, on their yield and cost implications.ResultsWe have provided up-to-date guidance for first-line and second-line investigations for children with GDD under the age of 5 years. Recent evidence demonstrates that genetic testing for all children with unexplained GDD should be first line, if an exogenous cause is not already established. Our review of the literature demonstrates that all patients, irrespective of severity of GDD, should have investigations for treatable conditions. Evidence demonstrates that the yield for treatable conditions is higher than previously thought and that investigations for these metabolic conditions should be considered as first line. Additional second-line investigations can be led by history, examination and developmental trajectories.DiscussionWe may need to update present recommendations in the UK for investigation of developmental delay. This would include microarray testing as first line and a more thorough approach to investigations for metabolic disorders that can be treated. Clinical assessment remains vital for guiding investigations.

Dagmara Annaz University College London Daniel Ansari University of Western Ontario, Canada Gaia Scerif University of Oxford, United Kingdom Chris Jarrold University of Bristol, United Kingdom Annette Karmiloff-Smith Birkbeck College Contact author: Michael Thomas, Developmental Neurocognition Laboratoy, School of Psychology, Birkbeck College, University of London, Malet Street, Bloomsbury, London WC1E 7HX, United Kingdom. E-mail: m.thomas{at}bbk.ac.uk . Purpose: In this article, the authors present a tutorial on the use of developmental trajectories for studying language and cognitive impairments in developmental disorders and compare this method with the use of matching. Method: The authors assess the strengths, limitations, and practical implications of each method. The contrast between the methodologies is highlighted using the example of developmental delay and the criteria used to distinguish delay from atypical development. Results: The authors argue for the utility of the trajectory approach, using illustrations from studies investigating language and cognitive impairments in individuals with Williams syndrome, Down syndrome, and autism spectrum disorder. Conclusion: Two conclusions were reached: (a) An understanding of the underlying mechanism will be furthered by the richer descriptive vocabulary provided by the trajectories approach (e.g., in distinguishing different types of delay) and (b) an optimal design for studying developmental disorders is to combine initial cross-sectional designs with longitudinal follow-up. KEY WORDS: development, trajectories, delay, deviance, disorders CiteULike     Connotea     Del.icio.us     Digg     Facebook     Reddit     Technorati     Twitter     What's this?

In this study, we examined imitation performance, visual attention, and the relationship between imitation and visual attention of children with autism, developmental delay (DD), and typically developing (TD) children. The study findings revealed that children with autism and DD imitated less than TD children in all imitation tasks. Results also showed that children with autism spent less time looking at the model's face and movement area and more time looking at the external area. Lastly, the relationship between imitation and visual attention separated the study groups. The findings of the study provided new evidence that visual attention to movement area in children with autism was positively related to imitation performance in non-meaningful gestures.

We analyzed data from case groups of 538 children with autism spectrum disorders (ASD) and 163 with developmental delays (DD), and from 421 typically developing controls to assess associations with maternal influenza or fever during pregnancy. Exposure information was obtained by telephone interviews, and outcomes were clinically confirmed. Though neither ASD nor DD was associated with influenza, both were associated with maternal fever during pregnancy: OR’s (odds ratios) were 2.12 (95 % CI 1.17, 3.84) and 2.50 (95 % CI 1.20, 5.20) respectively. However, the fever-associated ASD risk was attenuated among mothers who reported taking antipyretic medications (OR = 1.30, 95 % CI 0.59, 2.84), but remained elevated for those who did not (OR = 2.55, 95 % CI 1.30, 4.99).

Parenting stress and child behavior problems have been posited to have a transactional effect on each other across development. However, few studies have tested this model empirically. The authors investigated the relationship between parenting stress and child behavior problems from ages 3 to 9 years old among 237 children, 144 of whom were typically developing and 93 who were identified as developmentally delayed. Behavior problems and parenting stress covaried significantly across time for both groups of children. Cross-lagged panel analyses generally supported a bidirectional relationship between parenting stress and child behavior problems for mothers and fathers.

Calcium/calmodulin-dependent protein kinase II (CAMK2) plays fundamental roles in synaptic plasticity that underlies learning and memory. Here, we describe a new recessive neurodevelopmental syndrome with global developmental delay, seizures and intellectual disability. Using linkage analysis and exome sequencing, we found that this disease maps to chromosome 5q31.1-q34 and is caused by a biallelic germline mutation in CAMK2A . The missense mutation, p.His477Tyr is located in the CAMK2A association domain that is critical for its function and localization. Biochemically, the p.His477Tyr mutant is defective in self-oligomerization and unable to assemble into the multimeric holoenzyme. In vivo , CAMK2A H477Y failed to rescue neuronal defects in C. elegans lacking unc-43 , the ortholog of human CAMK2A. In vitro , neurons derived from patient iPSCs displayed profound synaptic defects. Together, our data demonstrate that a recessive germline mutation in CAMK2A leads to neurodevelopmental defects in humans and suggest that dysfunctional CAMK2 paralogs may contribute to other neurological disorders. Each year, some children are born with developmental disorders and intellectual disabilities. These conditions are often caused by mutations in specific genes. Sometimes both copies of a gene – one inherited from each parent – need to be mutated for the symptoms to develop. These mutations are known as recessive mutations. Here, Chia, Zhong, Niwa et al. diagnosed two siblings in their clinical care with a new form of neurological disease that affects the development of the brain and leads to frequent seizures. To test whether the young patients shared a genetic mutation that could explain their condition, the researchers analyzed the DNA of the children and compared the results with the DNA from their parents and healthy siblings. The results showed that the two children with the condition had inherited a recessive mutation in a gene called CAMK2A . The protein this gene encodes helps nerve cells to form connections and communicate with each other, and it has been shown to be essential for learning and memory. The CAMK2A enzyme is made up of several identical subunits that form a complex. Chia et al. discovered that the mutation prevented these subunits from joining together properly, resulting in a faulty protein. CAMK2A and other related proteins are crucial for the health of the brain in a wide range of animals. Indeed, experiments in Caenorhabditis elegans , a roundworm commonly used to study neurons, confirmed that the mutation inherited by the children indeed caused similar neurological defects in the worms. Taken together, these experiments suggest that the children’s condition is caused by the mutation in both copies of the CAMK2A gene. For patients born with inherited diseases, it is often difficult to pinpoint exactly which mutation is responsible for the specific disorder. These findings could therefore help pediatric geneticists recognize this newly defined syndrome and reach the correct diagnoses. These results could also be the starting point for studies that look into restoring the activity of the defective CAMK2A protein.More broadly, identifying genes that are critical for the healthy development of the brain could shed light on common neurological conditions, such as epilepsy and autism.

Telehealth is a promising modality for Part C early intervention (EI), services typically implemented face-to-face in home and community settings. Barriers to telehealth in EI reported prior to COVID-19 included lack of training and access to reliable internet. The abrupt telehealth shift at the onset of the pandemic did not permit a phased adoption approach. This mixed-methods study aimed to characterize perspectives of service changes resulting from the telehealth transition. Providers (n = 39) and caregivers (n = 11) completed surveys about perceptions towards the telehealth switch. All providers indicated at least one aspect of services had changed. Approximately half of caregivers reported satisfaction with services decreased and half that satisfaction remained the same. Implications for telehealth in EI beyond the pandemic are discussed.