Canonical Babbling: A Marker for Earlier Identification of Late Detected Developmental Disorders?

AbstractPurpose of ReviewTo summarize findings about the emergence and characteristics of canonical babbling in children with late detected developmental disorders (LDDDs), such as autism spectrum disorder, Rett syndrome, and fragile X syndrome. In particular, we ask whether infants ’ vocal development in the first year of life contains any markers that may contribute to earlier detection of these disorders.Recent FindingsOnly a handful studies have investigated canonical babbling in infants with LDDDs. With divergent research paradigms and definitions applied, findings on the onset and characteristics of canonical babbling are inconsistent and difficult to compare. Infants with LDDDs showed reduced likelihood to produce canonical babbling vocalizations. If achieved, this milestone was more likely to be reached beyond the critical time window of 5 –10 months.SummaryCanonical babbling appears promising as a potential marker for early detection of infants at risk for developmental disorders. In-depth studies on babbling characteristics in LDDDs are warranted.
Source: Current Developmental Disorders Reports - Category: Child Development Source Type: research

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Albert Sanfeliu1, Karsten Hokamp2, Michael Gill1 and Daniela Tropea1,3*1Neuropsychiatric Genetics, Department of Psychiatry, School of Medicine, Trinity Translational Medicine Institute, St James Hospital, Dublin, Ireland2Department of Genetics, School of Genetics and Microbiology, Smurfit Institute of Genetics, Trinity College Dublin, Dublin, Ireland3Department of Psychiatry, School of Medicine, Trinity College Institute for Neuroscience, Trinity College Dublin, Dublin, IrelandRett syndrome is a rare neuropsychiatric disorder with a wide symptomatology including impaired communication and movement, cardio-respiratory abno...
Source: Frontiers in Psychiatry - Category: Psychiatry Source Type: research
In conclusion, we further advanced the molecular understanding of mitochondrial dysfunction in RTT. Intensified mitochondrial O2 consumption, increased mitochondrial ROS generation and disturbed redox balance in mitochondria and cytosol may represent a causal chain, which provokes dysregulated proteins, oxidative tissue damage, and contributes to neuronal network dysfunction in RTT. Introduction Rett syndrome (RTT) is a progressive neurodevelopmental disorder. It primarily affects females, who show the first obvious symptoms within 6–18 months after birth. Among the characteristics are a regression of mental ...
Source: Frontiers in Physiology - Category: Physiology Source Type: research
Conclusions and implicationsRtN may be a potential parameter of interest in a comprehensive early detection model characterising age-specific neurofunctional biomarkers associated with specific disorders, and contribute to early identification.
Source: Research in Developmental Disabilities - Category: Disability Source Type: research
Publication date: 2018 Source:Handbook of Clinical Neurology, Volume 155 Author(s): Mercedes Serrano Epigenetics is a growing field of knowledge that is changing our understanding of pathologic processes. For many cerebellar disorders, recent discoveries of epigenetic mechanisms help us to understand their pathophysiology. In this chapter, a short explanation of each epigenetic mechanism (including methylation, histone modification, and miRNA) is followed by references to those cerebellar disorders in which relevant epigenetic advances have been made. The importance of normal timing and distribution of methylation during ...
Source: Handbook of Clinical Neurology - Category: Neurology Source Type: research
Publication date: 8 June 2018 Source:Progress in Neuro-Psychopharmacology and Biological Psychiatry, Volume 84, Part B Author(s): Katrin Linda, Carol Fiuza, Nael Nadif Kasri A major challenge in clinical genetics and medicine is represented by genetically and phenotypically highly diverse neurodevelopmental disorders, like for example intellectual disability and autism. Intellectual disability is characterized by substantial limitations in cognitive function and adaptive behaviour. At the cellular level, this is reflected by deficits in synaptic structure and plasticity and therefore has been coined as a synaptic disorder...
Source: Progress in Neuro Psychopharmacology and Biological Psychiatry - Category: Psychiatry Source Type: research
Conclusions and implications RtN may be a potential parameter of interest in a comprehensive early detection model characterising age-specific neurofunctional biomarkers associated with specific disorders, and contribute to early identification.
Source: Research in Developmental Disabilities - Category: Disability Source Type: research
In this study, we review several known functions of lncRNAs and the potential contribution of lncRNAs to ASDs and to other genetic syndromes that have a similar clinical presentation to ASDs, such as fragile X syndrome and Rett syndrome. PMID: 28635106 [PubMed - as supplied by publisher]
Source: CNS Neuroscience and Therapeutics - Category: Neuroscience Authors: Tags: CNS Neurosci Ther Source Type: research
Abstract Fragile X syndrome (FXS) patients present neuronal alterations that lead to severe intellectual disability, but the underlying neuronal circuit mechanisms are poorly understood. An emerging hypothesis postulates that reduced GABAergic inhibition of excitatory neurons is a key component in the pathophysiology of FXS. Here, we directly test this idea in a FXS Drosophila model. We show that FXS flies exhibit strongly impaired olfactory behaviors. In line with this, olfactory representations are less odor specific due to broader response tuning of excitatory projection neurons. We find that impaired inhibitor...
Source: Current Biology - Category: Biology Authors: Tags: Curr Biol Source Type: research
The opportunity to model autism spectrum disorders (ASD) through generation of patient‐derived induced pluripotent stem cells (iPSCs) is currently an emerging topic. Wide‐scale research of altered brain circuits in syndromic ASD, including Rett Syndrome, Fragile X Syndrome, Angelman's Syndrome and sporadic Schizophrenia, was made possible through animal models. However, possibly due to species differences, and to the possible contribution of epigenetics in the pathophysiology of these diseases, animal models fail to recapitulate many aspects of ASD. With the advent of iPSCs technology, 3D cultures of patient‐derived ...
Source: Development, Growth and Differentiation - Category: Research Authors: Tags: Review Article Source Type: research
Abstract Intellectual disability (ID) and autism are present in several neurodevelopmental disorders and are often associated in genetic syndromes, such as Fragile X and Rett syndromes. While most evidence indicates that a genetic component plays an important role in the aetiology of both autism and ID, a number of studies suggest that immunological dysfunctions may participate in the pathophysiology of these disorders. Brain-specific autoantibodies have been detected in the sera of many autistic children and autoimmune disorders are increased in families of children with autism. Furthermore, cytokine imbalance ha...
Source: CNS and Neurological Disorders Drug Targets - Category: Drugs & Pharmacology Authors: Tags: CNS Neurol Disord Drug Targets Source Type: research
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