Angelman Syndrome

2013 ◽  
Author(s):  
Edwin J. Weeber
Keyword(s):  
Developmental Delay ◽  
Angelman Syndrome ◽  
Neurological Disorder ◽  
Motor Coordination ◽  
Clinical Presentation ◽  
Sleep Disruption ◽  
Behavioral Difficulties ◽  
Symptom Complex ◽  
Degrees Of Severity

Angelman syndrome (AS) is a devastating neurological disorder with a symptom complex that includes but is not limited to severe developmental delay, profound cognitive disruption, motor coordination defects, increased propensity for seizure with a characteristic abnormal electroencephalogram, sleep disruption, behavioral difficulties, a lack of speech, and an overall happy demeanor. Although the disorder was first described in 1965 by British pediatrician Dr. Harry Angelman, because AS is clinically characterized by a wide constellation of symptoms with varying degrees of severity, it is not readily diagnosed by clinical presentation alone and misdiagnosis has commonly occurred.

Jansky-Bielschowsky syndrome, a lysosomal disease: First diagnosed cash in Oman

1992 ◽  
Vol 50 (1) ◽  
pp. 632-633
Author(s):  
Line Buhl ◽  
David Muirhead
Keyword(s):  
Mental Retardation ◽  
Clinical Picture ◽  
Neurological Disorder ◽  
Clinical Presentation ◽  
Neuronal Ceroid Lipofuscinosis ◽  
Infantile Form ◽  
Lysosomal Disease ◽  
Juvenile Form ◽  
Progressive Encephalopathy ◽  
Lysosomal Diseases

There are four lysosomal diseases of which the neuronal ceroid lipofuscinosis is the rarest. The clinical presentation and their characteric abnormal ultrastructure subdivide them into four types. These are known as the Infantile form (Santavuori-Haltia), Late infantile form (Jansky-Bielschowsky), Juvenile form (Batten-Spielmeyer-Voght) and the Adult form (Kuph's).An 8 year old Omani girl presented wth myclonic jerks since the age of 4 years, with progressive encephalopathy, mental retardation, ataxia and loss of vision. An ophthalmoscopy was performed followed by rectal suction biopsies (fig. 1). A previous sibling had died of an undiagnosed neurological disorder with a similar clinical picture.

scholarly journals Angelman Syndrome and Angelman-like Syndromes Share the Same Calcium-Related Gene Signatures

2021 ◽  
Vol 22 (18) ◽  
pp. 9870
Author(s):  
Julia Panov ◽  
Hanoch Kaphzan
Keyword(s):  
Angelman Syndrome ◽  
Neurodevelopmental Disorders ◽  
Clinical Presentation ◽  
Rna Seq ◽  
Related Gene ◽  
Bioinformatics Analyses ◽  
Gene Signatures ◽  
Signature Genes ◽  
Gene Expression Analyses ◽  
Differential Gene

Angelman-like syndromes are a group of neurodevelopmental disorders that entail clinical presentation similar to Angelman Syndrome (AS). In our previous study, we showed that calcium signaling is disrupted in AS, and we identified calcium-target and calcium-regulating gene signatures that are able to differentiate between AS and their controls in different models. In the herein study, we evaluated these sets of calcium-target and calcium-regulating genes as signatures of AS-like and non-AS-like syndromes. We collected a number of RNA-seq datasets of various AS-like and non-AS-like syndromes and performed Principle Component Analysis (PCA) separately on the two sets of signature genes to visualize the distribution of samples on the PC1–PC2 plane. In addition to the evaluation of calcium signature genes, we performed differential gene expression analyses to identify calcium-related genes dysregulated in each of the studied syndromes. These analyses showed that the calcium-target and calcium-regulating signatures differentiate well between AS-like syndromes and their controls. However, in spite of the fact that many of the non-AS-like syndromes have multiple differentially expressed calcium-related genes, the calcium signatures were not efficient classifiers for non-AS-like neurodevelopmental disorders. These results show that features based on clinical presentation are reflected in signatures derived from bioinformatics analyses and suggest the use of bioinformatics as a tool for classification.

scholarly journals Correlation between Motor Coordination Skills and Emotional and Behavioral Difficulties in Children with and without Developmental Coordination Disorder

2020 ◽  
Vol 17 (20) ◽  
pp. 7362
Author(s):  
Kyujin Lee ◽  
Yong Hwan Kim ◽  
Yongho Lee
Keyword(s):  
Behavioral Problems ◽  
Motor Coordination ◽  
Developmental Coordination Disorder ◽  
Assessment System ◽  
Emotional And Behavioral Problems ◽  
Behavioral Difficulties ◽  
Emotional Symptoms ◽  
Personal Adjustment ◽  
Percentile Score ◽  
Coordination Disorder

The purpose of this study was to compare whole factors of emotional and behavioral problems between children with and without developmental coordination disorder (DCD) and investigate the interrelationship between motor coordination skills and emotional and behavioral problems among the children. As a result of screening participants (288 children) based on DSM-5 standard, participants were classified as DCD and typically developing (TD) groups. A total of 60 children (mean age: 8.8 years ± 3.5 months; DCD group n = 30, TD group n = 30) were assessed using the Korean Behavior Assessment System for Children, Second Edition for emotional and behavioral problems. Children with DCD showed significantly poor scores in internalizing problems (p = 0.009), inattention/hyperactivity (p = 0.004), and emotional symptoms index (p = 0.001) among the criteria of emotional problems and in personal adjustment (p = 0.000) among the criteria of behavioral problems. The MABC-2 composite percentile score of participants showed a significant correlation with internalizing problem behavior (r = −0.382, p = 0.003), inattention / hyperactivity disorder (r = −0.409, p = 0.001), emotional symptoms index (r = −0.483, p = 0.000), and personal adjustment (r = 0.474, p < 0.01). Our results validated that children with DCD have more emotional and behavioral difficulties than TD children. Our results revealed that the motor coordination skills have correlated with emotional and behavioral difficulties among children.

An unusual phenotype of X-linked developmental delay and extreme behavioral difficulties associated with a mutation in the EBP gene

2014 ◽  
Vol 164 (4) ◽  
pp. 907-914 ◽  
Author(s):  
Verity L. Hartill ◽  
Carolyn Tysoe ◽  
Nigel Manning ◽  
Angus Dobbie ◽  
Saikat Santra ◽  
...  
Keyword(s):  
Developmental Delay ◽  
Behavioral Difficulties ◽  
Unusual Phenotype

Restless legs syndrome: the most prevalent “unknown” disorder

2011 ◽  
Vol 152 (7) ◽  
pp. 259-266 ◽  
Author(s):  
Anett Lindner ◽  
Márta Novák ◽  
Miklós Zsolt Molnár
Keyword(s):  
Restless Legs Syndrome ◽  
Health Care Professionals ◽  
Clinical Presentation ◽  
Social Consequences ◽  
Sleep Disruption ◽  
Daytime Functioning ◽  
Restless Legs ◽  
High Prevalence ◽  
Consequences Of Disease

Sleep disorders are also considered as significant chronic disorders, as their physiological and psycho-social consequences are well documented. Restless legs syndrome has high prevalence, as it occurs in 5–10 % of the general population. Since clinical presentation is not well appreciated by many of the health care professionals, only a small proportion of the patients with restless legs syndrome is diagnosed and treated. The consequences of disease, however, are not negligible. The majority of the patients suffer from insomnia, impaired daytime functioning and quality of life. Although, restless legs syndrome is frequently characterized as a sleep disorder, it does not only influence sleep but also the daytime functioning of the patients. Additionally, restless legs syndrome causes not only subjective complaints and sleep disruption, but it is also associated with cardiovascular disorders. Orv. Hetil., 2011, 152, 259–266.

scholarly journals Deleting a UBE3A substrate rescues impaired hippocampal physiology and learning in Angelman syndrome mice

2021 ◽  
Vol 11 (1) ◽  
Author(s):  
Gabrielle L. Sell ◽  
Wendy Xin ◽  
Emily K. Cook ◽  
Mark A. Zbinden ◽  
Thomas B. Schaffer ◽  
...  
Keyword(s):  
Angelman Syndrome ◽  
Developmental Disorders ◽  
Motor Coordination ◽  
Synapse Formation ◽  
Neurodevelopmental Disorder ◽  
Autism Spectrum ◽  
Loss Of Function ◽  
Behavioral Deficits ◽  
Altered Expression ◽  
Exciting Potential

AbstractIn humans, loss-of-function mutations in the UBE3A gene lead to the neurodevelopmental disorder Angelman syndrome (AS). AS patients have severe impairments in speech, learning and memory, and motor coordination, for which there is currently no treatment. In addition, UBE3A is duplicated in > 1–2% of patients with autism spectrum disorders—a further indication of the significant role it plays in brain development. Altered expression of UBE3A, an E3 ubiquitin ligase, is hypothesized to lead to impaired levels of its target proteins, but identifying the contribution of individual UBE3A targets to UBE3A-dependent deficits remains of critical importance. Ephexin5 is a putative UBE3A substrate that has restricted expression early in development, regulates synapse formation during hippocampal development, and is abnormally elevated in AS mice, modeled by maternally-derived Ube3a gene deletion. Here, we report that Ephexin5 can be directly ubiquitylated by UBE3A. Furthermore, removing Ephexin5 from AS mice specifically rescued hippocampus-dependent behaviors, CA1 physiology, and deficits in dendritic spine number. Our findings identify Ephexin5 as a key driver of hippocampal dysfunction and related behavioral deficits in AS mouse models. These results demonstrate the exciting potential of targeting Ephexin5, and possibly other UBE3A substrates, to improve symptoms of AS and other UBE3A-related developmental disorders.

Neuroradiological Mimics of Periventricular Leukomalacia

2021 ◽  
pp. 088307382110260
Author(s):  
Nihaal Reddy ◽  
Mary Doyle ◽  
Prasad Hanagandi ◽  
Ajay Taranath ◽  
Hisham Dahmoush ◽  
...  
Keyword(s):  
White Matter ◽  
Neurological Disorder ◽  
Clinical Presentation ◽  
Periventricular Leukomalacia ◽  
Brain Mri ◽  
White Matter Injury ◽  
Healthy Children ◽  
Imaging Features ◽  
Inherited Disorders ◽  
Radiological Criteria

Aim: Periventricular leukomalacia (PVL) is a term reserved to describe white matter injury in the premature brain. In this review article, the authors highlight the common and rare pathologies mimicking the chronic stage of PVL and propose practical clinico-radiological criteria that would aid in diagnosis and management. Methods and Results: The authors first describe the typical brain MRI (magnetic resonance imaging) features of PVL. Based on their clinical presentation, pathologic entities and their neuroimaging findings were clustered into distinct categories. Three clinical subgroups were identified: healthy children, children with stable/nonprogressive neurological disorder, and those with progressive neurological disorder. The neuroradiological discriminators are described in each subgroup with relevant differential diagnoses. The mimics were broadly classified into normal variants, acquired, and inherited disorders. Conclusions: The term “PVL” should be used appropriately as it reflects its pathomechanism. The phrase “white matter injury of prematurity” or “brain injury of prematurity” is more specific. Discrepancies in imaging and clinical presentation must be tread with caution and warrant further investigations to exclude other possibilities.

scholarly journals Seizure-like activity in a juvenile Angelman syndrome mouse model is attenuated by reducing Arc expression

2015 ◽  
Vol 112 (16) ◽  
pp. 5129-5134 ◽  
Author(s):  
Caleigh Mandel-Brehm ◽  
John Salogiannis ◽  
Sameer C. Dhamne ◽  
Alexander Rotenberg ◽  
Michael E. Greenberg
Keyword(s):  
Angelman Syndrome ◽  
Motor Coordination ◽  
Neural Circuit ◽  
Brain Activity ◽  
Neurodevelopmental Disorder ◽  
Ultrasonic Vocalizations ◽  
Therapeutic Interventions ◽  
Motor Deficits ◽  
Loss Of Function ◽  
Circuit Defects

Angelman syndrome (AS) is a neurodevelopmental disorder arising from loss-of-function mutations in the maternally inherited copy of the UBE3A gene, and is characterized by an absence of speech, excessive laughter, cognitive delay, motor deficits, and seizures. Despite the fact that the symptoms of AS occur in early childhood, behavioral characterization of AS mouse models has focused primarily on adult phenotypes. In this report we describe juvenile behaviors in AS mice that are strain-independent and clinically relevant. We find that young AS mice, compared with their wild-type littermates, produce an increased number of ultrasonic vocalizations. In addition, young AS mice have defects in motor coordination, as well as abnormal brain activity that results in an enhanced seizure-like response to an audiogenic challenge. The enhanced seizure-like activity, but not the increased ultrasonic vocalizations or motor deficits, is rescued in juvenile AS mice by genetically reducing the expression level of the activity-regulated cytoskeleton-associated protein, Arc. These findings suggest that therapeutic interventions that reduce the level of Arc expression have the potential to reverse the seizures associated with AS. In addition, the identification of aberrant behaviors in young AS mice may provide clues regarding the neural circuit defects that occur in AS and ultimately allow new approaches for treating this disorder.

COLIC IN INFANTS

PEDIATRICS ◽  
1956 ◽  
Vol 18 (5) ◽  
pp. 828-829
Author(s):  
Jerome Glaser
Keyword(s):  
Practical Interest ◽  
Full Time ◽  
National Meeting ◽  
Intermittent Abdominal Pain ◽  
Fundamental Knowledge ◽  
Interns And Residents ◽  
Part Time ◽  
Symptom Complex ◽  
First Time ◽  
Degrees Of Severity

This may well have been a historic occasion because so far as I have been able to ascertain, this was the first time that a symposium on the important subject of colic in infants had ever been presented at a national meeting of pediatricians. Due to the fact that little attention is paid to colic in institutions, this disorder has rarely received the attention of the full-time academic pediatrician (unless he has experienced it in his own family). For that reason interns and residents all too commonly encounter this frustrating problem only on starting private practice when it becomes a matter of great importance and concern. Our fundamental knowledge of what is termed "colic" is so uncertain that it is appropriate in discussing this subject to quote a remark by Tenney, "And so it is with colic; maybe there is no such thing, but there is certainly something that makes perfectly healthy babies cry almost unbelievably loud and long without interfering with their perfect health." For the purposes of this discussion colic may be defined as a symptom complex of early infancy characterized by evidence of intermittent abdominal pain of varying degrees of severity for which no organic or obvious physiological cause can be regularly demonstrated. For discussion of this subject pediatricians were selected who for the most part, because of part-time positions on the teaching staffs of medical schools, would be expected to have academic as well as practical interest in this problem and who, because of their varying interests, have considered the problem from different viewpoints. Attention is directed particularly to the fact that among the 8 papers presented at this symposium only 2 were by pediatric allergists, Dr. Fries' and Dr. Ratner's.

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