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Dravet syndrome (DS) is a developmental epileptic encephalopathy, characterized by fever-triggered focal or hemiclonic seizures at onset with various associated comorbidities like intellectual disability, gait abnormalities, and behavioral issues. It typically advances to drug-refractory epilepsy with multiple seizure semiology. In this review, we give a focused narrative on the treatment aspects of DS. We searched the PubMed database for articles on DS. More than 500 articles were reviewed, of which 55 relevant articles are included in this review. ClinicalTrials.gov database was also accessed for data on ongoing trials. Majority are caused by mutations in the SCN1A gene. Valproate and clobazam are the most commonly used traditional antiseizure medications. Stiripentol, fenfluramine, and cannabidiol are recently approved drugs with promising results. Ketogenic diet and vagus nerve stimulation are commonly tried nonpharmacologic modalities that have shown significant responses. Antisense oligonucleotides and viral vector-mediated gene transfer therapies are on the horizon. This review outlines the current existing treatment rationale, evidence for newly approved drugs, and the future scope of gene therapy in DS. [ABSTRACT FROM AUTHOR]

Background: Sensory processing refers to receiving, organizing, and interpreting sensory stimuli from the sensory system. Unlike other neurodevelopmental disorders, knowledge about the sensory processing abilities of children with cerebral palsy (CP) is lacking. Objective: To study the difference in sensory processing abilities of children with cerebral palsy in comparison to age matched typically developing children (TDC). Methods and Material: A cross-sectional analysis of sensory processing abilities of children with CP and TDC was performed from July 2018 through February 2020. The child sensory profile2 (CSP2) caregiver questionnaire was used to detect sensory processing differences (SPD) across nine sensory domains and four sensory processing patterns. A comparison was made between the two study groups as well as between the CP subtypes. Result: Around 226 children with CP and 58 TDC were screened. Finally, 150 children with CP and 50 TDC were enrolled. Probable SPD (>1SD) was observed in (121/150) 80.7% of children with CP compared to (13/50) 26% in TDC (p < 0.001). Definite SPD (>2SD) was seen in 40.7% (61/150) of children with CP vs. none in TDC (p < 0.001). The body position domain which tests the vestibular and proprioceptive processing was primarily affected in CP. Most children with CP fell under the "bystander" pattern suggesting poor registration of sensory stimuli. No significant difference in the pattern of sensory processing was observed between the CP subtypes. Prevalence of definite SPD positively correlated with the gross motor functional classification system level. Conclusion: Sensory processing abilities of children with CP differ significantly from TDC. Proprioceptive and vestibular sensory processing is primarily affected in CP. [ABSTRACT FROM AUTHOR]

The article discusses several autism research. These include a community-based participatory study which aimed to identify the research priorities of autistic adults living in Scotland, another which assessed the temporal and mechanistic associations between potential risk factors and suicidality in autistic individuals, and another which evaluated the feasibility of the Autism Navigator JumpStart to Coaching in Everyday Activities course to train specialist and non-specialist providers.

Byline: Shruthi. N M, Sheffali. Gulati Craniosynostosis is premature fusion of sutures of the cranium, resulting in an abnormal skull shape and restriction of brain growth. It may affect either [...]

Infantile central palsy (CP) is caused due to damage to the immature developing brain usually before birth, leading to altered topography and biochemical milieu. CP is a life-limiting disorder, which causes changes in sensory, motor, cognitive, and behavioral functioning. Understanding its pathophysiology is complex, and current therapeutic modalities, oral medication, surgical treatment, physical therapy, and rehabilitation provide minimal relief. As the brain is plastic, it has an inherent capacity to adapt to altered activity; thus, non-invasive brain stimulation (NIBS) strategies, like repetitive transcranial magnetic stimulation, which can modulate the neuronal activity and its function, may lead to recovery in CP patients. Further, in recent years, nanomedicine has shown a promising approach in pre-clinical studies for the treatment of central nervous system disorder because it can cross the blood-brain barrier, improve penetration, and provide sustained release of the drug. The review focuses on the principles and mechanisms of various NIBS techniques used in CP. We have also contemplated the effect of rehabilitation and nanomedicine in CP children, which will definitely lead to advancing our diagnostic as well as therapeutic abilities, in a vulnerable group of little ones. [ABSTRACT FROM AUTHOR]

Background: Currently, clinical assessment is the main tool for the evaluation of brachial plexus injury, complemented by electrophysiologic studies (EPS), and imaging studies whenever available. Imaging plays an important role as it enables the differentiation of pre-ganglionic and postganglionic injuries, and adds objectivity to presurgical evaluation. Objectives: The primary objective was to evaluate the utility of magnetic resonance imaging (MRI) and high-resolution ultrasonography (USG) in the localization and characterization of brachial plexus injury in infants. Materials and Methods: In this prospective study, 34 infants with signs and symptoms of brachial plexus injury were evaluated by clinical examination, EPS, MRI, and USG. Imaging findings were correlated with intraoperative findings in infants who underwent surgical management. The association between EPS and MRI findings, and USG and MRI findings were assessed using Fisher's exact test. Semi-quantitative subjective analysis of various MRI sequences was done as well. Results: The most common findings of preganglionic injury and postganglionic injury, in our study, were pseudomeningocele and nerve thickening, respectively. MRI detection of injuries had a significant association with EPS findings. All MRI-detected injuries had a muscle power of grade 3 or less. muscle. Three-dimensional (3D) short tau inversion recovery (STIR) sequence was found to be superior for detecting postganglionic injuries (P < 0.05). Conclusion: Imaging studies enable localization of the site of injury, determining the extent, and nature/morphology of injury. The gamut of findings obtained from MRI is far wider compared to that from USG. USG can be used as the first-line screening investigation. [ABSTRACT FROM AUTHOR]

A diagnosis of autism typically depends on clinical assessments by highly trained professionals. This high resource demand poses a challenge in low-resource settings. Digital assessment of neurodevelopmental symptoms by non-specialists provides a potential avenue to address this challenge. This cross-sectional case-control field study establishes proof of principle for such a digital assessment. We developed and tested an app, START, that can be administered by non-specialists to assess autism phenotypic domains (social, sensory, motor) through child performance and parent reports. N = 131 children (2–7 years old; 48 autistic, 43 intellectually disabled and 40 non-autistic typically developing) from low-resource settings in Delhi-NCR, India were assessed using START in home settings by non-specialist health workers. The two groups of children with neurodevelopmental disorders manifested lower social preference, greater sensory interest and lower fine-motor accuracy compared to their typically developing counterparts. Parent report further distinguished autistic from non-autistic children. Machine-learning analysis combining all START-derived measures demonstrated 78% classification accuracy for the three groups. Qualitative analysis of the interviews with health workers and families of the participants demonstrated high acceptability and feasibility of the app. These results provide feasibility, acceptability and proof of principle for START, and demonstrate the potential of a scalable, mobile tool for assessing neurodevelopmental conditions in low-resource settings. Autism is diagnosed by highly trained professionals– but most autistic people live in parts of the world that harbour few or no such autism specialists and little autism awareness. So many autistic people go undiagnosed, misdiagnosed, and misunderstood. We designed an app (START) to identify autism and related conditions in such places, in an attempt to address this global gap in access to specialists. START uses computerised games and activities for children and a questionnaire for parents to measure social, sensory, and motor skills. To check whether START can flag undiagnosed children likely to have neurodevelopmental conditions, we tested START with children whose diagnoses already were known: Non-specialist health workers with just a high-school education took START to family homes in poor neighbourhoods of Delhi, India to work with 131 two-to-seven-year-olds. Differences between typically and atypically developing children were highlighted in all three types of skills that START assesses: children with neurodevelopmental conditions preferred looking at geometric patterns rather than social scenes, were fascinated by predictable, repetitive sensory stimuli, and had more trouble with precise hand movements. Parents' responses to surveys further distinguished autistic from non-autistic children. An artificial-intelligence technique combining all these measures demonstrated that START can fairly accurately flag atypically developing children. Health workers and families endorsed START as attractive to most children, understandable to health workers, and adaptable within sometimes chaotic home and family environments. This study provides a proof of principle for START in digital screening of autism and related conditions in community settings. [ABSTRACT FROM AUTHOR]

Byline: Juhi. Gupta, Sachendra. Badal, Vaishakh. Anand, Prashant. Jauhari, Biswaroop. Chakrabarty, Sheffali. Gulati Hyperekplexia, an underdiagnosed motor paroxysm of infancy, mimics epilepsy closely. It is hallmarked by episodic and excessive [...]

Byline: Vaishakh. Anand, Sachendra. Badal, Sheffali. Gulati Sir, Tuberous sclerosis complex (TSC) is an autosomal dominant neurocutaneous syndrome and can affect multiple organ systems. The estimated prevalence of TSC is [...]

Alterations in the development of attention control and learning have been associated with autism and can be measured using the 'antisaccade task', which assesses a child's ability to make an oculomotor response away from a distracting stimulus, and learn to instead anticipate a later reward. We aimed to assess these cognitive processes using portable eye-tracking in an understudied population of pre-school children with and without a diagnosis of autism spectrum disorder in community settings in New Delhi, India. The eye-tracking antisaccade task was presented to children in three groups (n = 104) (children with a clinical diagnosis of autism spectrum disorder or intellectual disability and children meeting developmental milestones). In accordance with findings from high-income, laboratory-based environments, children learnt to anticipate looks towards a reward, as well as inhibit eye-movements towards a distractor stimulus. We also provide novel evidence that while differences in inhibition responses might be applicable to multiple developmental conditions, a reduced learning to anticipate looks towards a target in this age group may be specific to autism. This eye-tracking task may, therefore, have the potential to identify and assess autism specific traits across development, and be used in longitudinal research studies such as investigating response to intervention in low-resource settings. The development of cognitive processes, such as attention control and learning, has been suggested to be altered in children with a diagnosis of autism spectrum disorder. However, nearly all of our understanding of the development of these cognitive processes comes from studies with school-aged or older children in high-income countries, and from research conducted in a controlled laboratory environment, thereby restricting the potential generalisability of results and away from the majority of the world's population. We need to expand our research to investigate abilities beyond these limited settings. We address shortcomings in the literature by (1) studying attention control and learning in an understudied population of children in a low- and middle-income country setting in India, (2) focusing research on a critical younger age group of children and (3) using portable eye-tracking technology that can be taken into communities and healthcare settings to increase the accessibility of research in hard-to-reach populations. Our results provide novel evidence on differences in attention control and learning responses in groups of children with and without a diagnosis of autism spectrum disorder. We show that learning responses in children that we assessed through a portable eye-tracking task, called the 'antisaccade task', may be specific to autism. This suggests that the methods we use may have the potential to identify and assess autism-specific traits across development, and be used in research in low-resource settings. [ABSTRACT FROM AUTHOR]

Byline: Harsh. Patel, Biswaroop. Chakrabarty, Rachna. Dubey, Atin. Kumar, Sheffali. Gulati A 13-month-old boy presented with delay in attainment of milestones. On examination, he had café au lait spots and [...]

Byline: Ranjith. Manokaran, Prashant. Jauhari, Biswaroop. Chakrabarty, Neerja. Gupta, Atin. Kumar, Sheffali. Gulati Lesch-Nyhan syndrome is a rare neurometabolic condition characterized by progressive choreoathetosis, intellectual disability, and peculiar manifestations like [...]

Byline: Priyanka. Madaan, Prashant. Jauhari, Biswaroop. Chakrabarty, Atin. Kumar, Sarthak. Tripathy, Nishikant. Damle, Sheffali. Gulati A 9-year-old boy presented with bilateral lower-motor-neuron facial-palsy, progressive hearing-loss, and radiating-pains in legs for [...]