Quantitative dissection of multilocus pathogenic variation in an Egyptian infant with severe neurodevelopmental disorder resulting from multiple molecular diagnoses

2021 ◽  
Author(s):  
Isabella Herman ◽  
Angad Jolly ◽  
Haowei Du ◽  
Moez Dawood ◽  
Ghada M. H. Abdel‐Salam ◽  
...  
Keyword(s):  
Neurodevelopmental Disorder ◽  
Pathogenic Variation

RLS May Be a Neurodevelopmental Disorder

2008 ◽  
Vol 41 (20) ◽  
pp. 17
Author(s):  
PATRICE WENDLING
Keyword(s):  
Neurodevelopmental Disorder

Reconsidering NMIHBA Core Features: Macrocephaly Is Not a So Unusual Sign in PRUNE1-Related Encephalopathy

2020 ◽  
Author(s):  
Roberta Battini ◽  
Enrico Bertini ◽  
Roberta Milone ◽  
Chiara Aiello ◽  
Rosa Pasquariello ◽  
...  
Keyword(s):  
Nervous System ◽  
Differential Diagnosis ◽  
Clinical Features ◽  
Neurodevelopmental Disorder ◽  
Recurrent Mutation ◽  
Clinical Suspicion ◽  
Alexander Disease ◽  
Brain Anomalies ◽  
Progressive Encephalopathy ◽  
Core Features

Abstract PRUNE1-related disorders manifest as severe neurodevelopmental conditions associated with neurodegeneration, implying a differential diagnosis at birth with static encephalopathies, and later with those manifesting progressive brain damage with the involvement of both the central and the peripheral nervous system.Here we report on another patient with PRUNE1 (p.Asp106Asn) recurrent mutation, whose leukodystrophy, inferior olives hyperintensity, and macrocephaly led to the misleading clinical suspicion of Alexander disease. Clinical features, together with other recent descriptions, suggest avoiding the term “microcephaly” in defining this disorder that could be renamed “neurodevelopmental disorder with progressive encephalopathy, hypotonia, and variable brain anomalies” (NPEHBA).

Response to Steroids in IQSEC2-Related Encephalopathy Presenting with Rett-Like Phenotype and Infantile Spasms

2020 ◽  
Author(s):  
Divya Nagabushana ◽  
Aparajita Chatterjee ◽  
Raghavendra Kenchaiah ◽  
Ajay Asranna ◽  
Gautham Arunachal ◽  
...  
Keyword(s):  
Late Onset ◽  
Neurodevelopmental Disorder ◽  
Epileptic Encephalopathy ◽  
Infantile Spasms ◽  
The Past ◽  
Resource Limited ◽  
The Central Nervous System ◽  
Motor Milestone ◽  
Behavior And Cognition ◽  
Atypical Rett Syndrome

Abstract Introduction IQSEC2-related encephalopathy is an X-linked childhood neurodevelopmental disorder with intellectual disability, epilepsy, and autism. This disorder is caused by a mutation in the IQSEC2 gene, the product of which plays an important role in the development of the central nervous system. Case Report We describe the symptomatology, clinical course, and management of a 17-month-old male child with a novel IQSEC2 mutation. He presented with an atypical Rett syndrome phenotype with developmental delay, autistic features, midline stereotypies, microcephaly, hypotonia and epilepsy with multiple seizure types including late-onset infantile spasms. Spasms were followed by worsening of behavior and cognition, and regression of acquired milestones. Treatment with steroids led to control of spasms and improved attention, behavior and recovery of lost motor milestone. In the past 10 months following steroid therapy, child lags in development, remains autistic with no further seizure recurrence. Conclusion IQSEC2-related encephalopathy may present with atypical Rett phenotype and childhood spasms. In resource-limited settings, steroids may be considered for spasm remission in IQSEC2-related epileptic encephalopathy.

A Case Of Prader-Willi Syndrome With Behavioural Disturbances: A Successful Multidisciplinary Management Approach

2020 ◽  
Vol 5 (1) ◽  
pp. 83
Author(s):  
Nor Jannah Nasution Raduan ◽  
Mohd Razali Salleh ◽  
Norharlina Bahar ◽  
Mohd Faiz Md Tahir ◽  
Najwa Hanim Md Rosli
Keyword(s):  
Neurodevelopmental Disorder ◽  
Pressure Control ◽  
Family Therapist ◽  
Sleep Apnoea ◽  
Obstructive Sleep Apnoea Syndrome ◽  
Management Approach ◽  
Adolescent Psychiatrist ◽  
Prader Willi Syndrome ◽  
Obstructive Sleep ◽  
Genetically Determined

Prader-Willi Syndrome (PWS) is a genetically determined neurodevelopmental disorder occurring in 1 in 15,000 births. PWS is a rare case in Malaysia and a successful approach to its management has not been well reported here. We present a case of a 13-year-old boy with Prader-Willi Syndrome with prominent behavioural disturbances characterised by temper tantrums, compulsive food intake, stubbornness, stealing and impulsivity further complicated by underlying morbid obesity, poorly controlled type 2 diabetes mellitus, hypertension, dyslipidaemia, obstructive sleep apnoea syndrome and intellectual disability. Multidisciplinary approach involving child and adolescent psychiatrist, occupational therapist, counsellor, family therapist, endocrinologist and dietician has shown to improve the patient’s weight, glucose and blood pressure control and most importantly the behavioural disturbances.

ADHD with Comorbid Bipolar Disorders: A Systematic Review of Neurobiological, Clinical and Pharmacological Aspects Across the Lifespan

2019 ◽  
Vol 26 (38) ◽  
pp. 6942-6969 ◽  
Author(s):  
Federico Mucci ◽  
Maria Teresa Avella ◽  
Donatella Marazziti
Keyword(s):  
Clinical Features ◽  
Adult Adhd ◽  
Neurodevelopmental Disorder ◽  
Bipolar Disorders ◽  
Mood Stabilizers ◽  
Disruptive Behaviour ◽  
Single Individual ◽  
Pharmacological Management ◽  
Long Time ◽  
The Individual

Background: Attention deficit hyperactivity (ADHD) disorder is a neurodevelopmental disorder characterized by inattention, hyperactivity, disruptive behaviour, and impulsivity. Despite considered typical of children for a long time, the persistence of ADHD symptoms in adulthood gained increasing interest during the last decades. Indeed, its diagnosis, albeit controversial, is rarely carried out even because ADHD is often comorbid with several other psychiatric diosrders, in particular with bipolar disorders (BDs), a condition that complicates the clinical picture, assessment and treatment. Aims: The aim of this paper was to systematically review the scientific literature on the neurobiological, clinical features and current pharmacological management of ADHD comorbid with BDs across the entire lifespan, with a major focus on the adulthood. Discussion: The pharmacology of ADHD-BD in adults is still empirical and influenced by the individual experience of the clinicians. Stimulants are endowed of a prompt efficacy and safety, whilst non-stimulants are useful when a substance abuse history is detected, although they require some weeks in order to be fully effective. In any case, an in-depth diagnostic and clinical evaluation of the single individual is mandatory. Conclusions: The comorbidity of ADHD with BD is still a controversial matter, as it is the notion of adult ADHD as a distinct nosological category. Indeed, some findings highlighted the presence of common neurobiological mechanisms and overlapping clinical features, although disagreement does exist. In any case, while expecting to disentangle this crucial question, a correct management of this comorbidity is essential, which requires the co-administration of mood stabilizers. Further controlled clinical studies in large samples of adult ADHD-BD patients appear extremely urgent in order to better define possible therapeutic guidelines, as well as alternative approaches for this potentially invalidating condition.

Specialized Diet Therapies: Exploration for Improving Behavior in Autism Spectrum Disorder (ASD)

2020 ◽  
Vol 27 (40) ◽  
pp. 6771-6786
Author(s):  
Geir Bjørklund ◽  
Nagwa Abdel Meguid ◽  
Maryam Dadar ◽  
Lyudmila Pivina ◽  
Joanna Kałużna-Czaplińska ◽  
...  
Keyword(s):  
Autism Spectrum Disorder ◽  
Neurodevelopmental Disorder ◽  
Caloric Intake ◽  
Autism Spectrum ◽  
Spectrum Disorder ◽  
Nutritional Deficiencies ◽  
Childhood And Adolescence ◽  
Restricted Interests ◽  
Balanced Diet ◽  
The Individual

As a major neurodevelopmental disorder, Autism Spectrum Disorder (ASD) encompasses deficits in communication and repetitive and restricted interests or behaviors in childhood and adolescence. Its etiology may come from either a genetic, epigenetic, neurological, hormonal, or an environmental cause, generating pathways that often altogether play a synergistic role in the development of ASD pathogenesis. Furthermore, the metabolic origin of ASD should be important as well. A balanced diet consisting of the essential and special nutrients, alongside the recommended caloric intake, is highly recommended to promote growth and development that withstand the physiologic and behavioral challenges experienced by ASD children. In this review paper, we evaluated many studies that show a relationship between ASD and diet to develop a better understanding of the specific effects of the overall diet and the individual nutrients required for this population. This review will add a comprehensive update of knowledge in the field and shed light on the possible nutritional deficiencies, metabolic impairments (particularly in the gut microbiome), and malnutrition in individuals with ASD, which should be recognized in order to maintain the improved socio-behavioral habit and physical health.

Specific Learning Disabilities

2018 ◽  
Author(s):  
Christopher J. Lonigan
Keyword(s):  
Learning Disabilities ◽  
Learning Disability ◽  
Language Proficiency ◽  
Medical Condition ◽  
Neurodevelopmental Disorder ◽  
Opportunity To Learn ◽  
Specific Learning Disability ◽  
Specific Learning Disabilities ◽  
Low Achievement ◽  
Specific Learning

Specific learning disability is a common neurodevelopmental disorder affecting about 5–8% of the school-aged population. A key concept in specific learning disabilities is unexpected low achievement. An individual whose achievement in reading, math, or writing is both low and less than what would be expected based on developmental capacity and opportunity to learn and whose low achievement cannot be explained by a sensory impairment, limited language proficiency, or other impairing medical condition is considered to have a specific learning disability. This chapter provides an overview of issues and challenges involved in the identification and diagnosis of a specific learning disability, and it provides information on prevalence, epidemiology, and interventions for specific learning disabilities. Response-to-instruction models of identification hold promise for the identification of individuals with a specific learning disability, and they provide a means for the identification of false positives while enhancing the instructional context for children at risk.

scholarly journals Pathogenic Variation of South American Phakopsora pachyrhizi Populations Isolated from Soybeans from 2010 to 2015

2017 ◽  
Vol 51 (3) ◽  
pp. 221-232 ◽  
Author(s):  
Hajime AKAMATSU ◽  
Naoki YAMANAKA ◽  
Rafael Moreira SOARES ◽  
Antonio Juan Gerardo IVANCOVICH ◽  
Miguel Angel LAVILLA ◽  
...  
Keyword(s):  
South American ◽  
Phakopsora Pachyrhizi ◽  
Pathogenic Variation
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