Pubmed du 19/12/21
1. Chao HC. Feeding difficulties and their treatment strategies in children with autism spectrum disorder. Pediatrics and neonatology. 2022; 63(1): 1-2.
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2. Guo K, Liu Y, Hong Z. Teaching Video NeuroImage: Tremor and Cerebellar Ataxia in a Patient With Fragile X-Associated Tremor/Ataxia Syndrome. Neurology. 2022; 98(9): e981-e2.
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3. Hull M, Emrick L, Sadat R, Parnes M. A case of treatable encephalopathy, developmental regression, and proximal tremor. Parkinsonism & related disorders. 2021; 93: 111-3.
Tyrosine hydroxylase (TH) deficiency is an autosomal recessive condition first described as a progressive, early-onset hypokinetic-rigid and dystonic syndrome that was responsive to levodopa. Here we present a child with developmental regression, proximal tremor, and encephalopathy found to have tyrosine hydroxylase deficiency in whom treatment resulted in acquisition of developmental milestones.
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4. Kozol RA, James DM, Varela I, Sumathipala SH, Züchner S, Dallman JE. Restoring Shank3 in the rostral brainstem of shank3ab-/- zebrafish autism models rescues sensory deficits. Communications biology. 2021; 4(1): 1411.
People with Phelan-McDermid Syndrome, caused by mutations in the SHANK3 gene, commonly exhibit reduced responses to sensory stimuli; yet the changes in brain-wide activity that link these symptoms to mutations in the shank3 gene remain unknown. Here we quantify movement in response to sudden darkness in larvae of two shank3 zebrafish mutant models and show that both models exhibit dampened responses to this stimulus. Using brain-wide activity mapping, we find that shank3(-/-) light-sensing brain regions show normal levels of activity while sensorimotor integration and motor regions are less active. Specifically restoring Shank3 function in a sensorimotor nucleus of the rostral brainstem enables the shank3(-/-) model to respond like wild-type. In sum, we find that reduced sensory responsiveness in shank3(-/-) models is associated with reduced activity in sensory processing brain regions and can be rescued by restoring Shank3 function in the rostral brainstem. These studies highlight the importance of Shank3 function in the rostral brainstem for integrating sensory inputs to generate behavioral adaptations to changing sensory stimuli.
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5. Martín-de-Saavedra MD, Dos Santos M, Culotta L, Varea O, Spielman BP, Parnell E, Forrest MP, Gao R, Yoon S, McCoig E, Jalloul HA, Myczek K, Khalatyan N, Hall EA, Turk LS, Sanz-Clemente A, Comoletti D, Lichtenthaler SF, Burgdorf JS, Barbolina MV, Savas JN, Penzes P. Shed CNTNAP2 ectodomain is detectable in CSF and regulates Ca(2+) homeostasis and network synchrony via PMCA2/ATP2B2. Neuron. 2022; 110(4): 627-43.e9.
Although many neuronal membrane proteins undergo proteolytic cleavage, little is known about the biological significance of neuronal ectodomain shedding (ES). Here, we show that the neuronal sheddome is detectable in human cerebrospinal fluid (hCSF) and is enriched in neurodevelopmental disorder (NDD) risk factors. Among shed synaptic proteins is the ectodomain of CNTNAP2 (CNTNAP2-ecto), a prominent NDD risk factor. CNTNAP2 undergoes activity-dependent ES via MMP9 (matrix metalloprotease 9), and CNTNAP2-ecto levels are reduced in the hCSF of individuals with autism spectrum disorder. Using mass spectrometry, we identified the plasma membrane Ca(2+) ATPase (PMCA) extrusion pumps as novel CNTNAP2-ecto binding partners. CNTNAP2-ecto enhances the activity of PMCA2 and regulates neuronal network dynamics in a PMCA2-dependent manner. Our data underscore the promise of sheddome analysis in discovering neurobiological mechanisms, provide insight into the biology of ES and its relationship with the CSF, and reveal a mechanism of regulation of Ca(2+) homeostasis and neuronal network synchrony by a shed ectodomain.
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6. Rush J, Paľa A, Kapapa T, Wirtz CR, Mayer B, Micah-Bonongwe A, Gladstone M, Kamalo P. Assessing neurodevelopmental outcome in children with hydrocephalus in Malawi. A pilot study. Clinical neurology and neurosurgery. 2022; 212: 107091.
INTRODUCTION: Congenital and infantile hydrocephalus are assumed to be major contributors to pediatric morbidity, mortality and functional disability in low-income countries. Despite this, epidemiologic data and the overview of neurodevelopmental outcomes in these regions is very limited. We aimed to pilot the use of a wide range of more locally suitable tools to assess neurodevelopment to understand whether they were feasible for use and could provide estimates of developmental delay and poor functioning in a population of children with hydrocephalus in Malawi. METHODS: We conducted a prospective observational cohort study, at the tertiary neurosurgery clinic in Blantyre, Malawi in 2018, recruiting consecutive children with congenital and infantile hydrocephalus who were previously treated with ventriculoperitoneal shunts and endoscopic third ventriculostomy (ETV) in the neurosurgery unit of the hospital. We assessed demographic details, and gained information on children’s functioning using the Liverpool Outcome Score (LOS), and the Eating and Drinking Ability Classification System as well as full anthropometric assessment and child development with the Malawi Developmental Assessment Tool (MDAT). RESULTS: All tools were feasible for use, easy to train on, could be used for assessing children with hydrocephalus and were suitable to adapt for our environment. We evaluated 41 children, aged 2-60 months with a mean age of 22.6 months (interquartile range [IQR] = 8.3 months -36.5 months). Functional assessment using the Liverpool Outcome Score showed the majority of children 92.7% (CI 80.1-98.5, n = 38) had severe sequelae from the hydrocephalus and were dependent on their parents or caregivers. Only 27 children (65.9%, CI 49.4, 80.0) had full or expected control of their bowel and bladder and 6 children (14.6%, CI 5.6, 29.2), had a recent history of seizures. About two thirds (63.4% CI 45.0-77.9, n = 26/41) of children were able to eat and to drink safely and efficiently. Over two thirds of the children (70.7%, CI 56.8, 84.6, n = 29) were stunted and almost half of the cohort underweight (43.9%,(CI 28.5, 60.3, n = 18). Almost half 48.8% (CI 32.9, 64.9, n = 20/41) had developmental delay on MDAT with 41.5% (CI 26.4, 56.6, n = 17/41) graded as severely delayed (-<2sd on developmental age z score). We found significant associations between dependence identified by the LOS and developmental delay according to the MDAT (p = 0.014, Pearson's chi-squared test). CONCLUSION: This pilot study demonstrates that the assessment tools we used identified a high proportion of children with hydrocephalus as having functional difficulties, stunted growth and developmental delay, in Malawi. Use of these tools can now be scaled up and will be helpful to support research in understanding what factors contribute to poor functioning, growth and development in these cohorts and help us to investigate what strategies may prevent and support children with hydrocephalus in African settings.
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7. Sheldrick RC. Editorial: Evaluating the Success of Early Detection of Autism: It’s Time to Move Beyond the Median. Journal of the American Academy of Child and Adolescent Psychiatry. 2021.
For many years, the median age of diagnosis has been the most widely used metric for evaluating changes in the early diagnosis of autism. The logic appears simple: if health and educational systems improve their ability to diagnose autism at early ages, then it would seem that the median age should fall. However, despite decades of efforts in the United States to improve the early identification, the median age of diagnosis has hardly budged. But simple logic can be deceptive. In a watershed analysis of data from the Autism and Developmental Disabilities Monitoring Network-the most prominent study of autism prevalence in the United States-Shaw and colleagues apply different metrics to existing data to yield novel findings. Citing earlier methodological work published in this journal and others, the authors report what they refer to as the « simple median age of diagnosis » (ie, the median age at the earliest recorded autism spectrum disorder diagnosis or special educational eligibility before 8 years of age) alongside 2 alternative metrics: (1) « median age at identification »-similar to the « simple median » except that it also includes children who meet case definitions for autism but are not yet identified by 8 years of age (ie, they do not have a recorded diagnosis or record of special education eligibility); and (2) cumulative incidence of autism by 4 years of age-ie, the ratio of the number of children diagnosed by 48 months of age divided by the total number of children in the population. Results have tremendous implications both for research and policy.
