Early Life Epilepsy and Episodic Apnea Revealing an ATP1A3 Mutation: Report of a Pediatric Case and Literature Review

2018 ◽  
Vol 49 (05) ◽  
pp. 339-341 ◽  
Author(s):  
Hanene Benrhouma ◽  
Hedia Klaa ◽  
Aida Rouissi ◽  
Myriam Chaabouni ◽  
Ichraf Kraoua ◽  
...  
Keyword(s):  
Hearing Loss ◽  
Neurological Disorders ◽  
Early Life ◽  
Rapid Onset ◽  
Diverse Group ◽  
Pediatric Case ◽  
Pes Cavus ◽  
Alternating Hemiplegia Of Childhood ◽  
Phenotypic Spectrum

Abstract ATP1A3 mutations have now been recognized in infants, children, and adults presenting with a diverse group of neurological phenotypes, including rapid-onset dystonia-parkinsonism, alternating hemiplegia of childhood, and most recently, cerebellar ataxia, areflexia, pes cavus, optic atrophy, and sensorineural hearing loss syndrome. The phenotypic spectrum of ATP1A3-related neurological disorders continues to expand. In this case study, we report on early life epilepsy with episodic apnea potentially secondary to ATP1A3 mutation in a Tunisian child.

Alternating hemiplegia of childhood and rapid-onset dystonia-parkinsonism: Phenotypic spectrum of ATP1A3-associated disorders

2013 ◽  
Vol 44 (02) ◽  
Author(s):  
K Brockmann ◽  
H Rosewich ◽  
H Thiele ◽  
U Maschke ◽  
P Huppke ◽  
...  
Keyword(s):  
Rapid Onset ◽  
Alternating Hemiplegia Of Childhood ◽  
Phenotypic Spectrum

scholarly journals ATP1A3-Related Disorders: An Ever-Expanding Clinical Spectrum

2021 ◽  
Vol 12 ◽  
Author(s):  
Philippe A. Salles ◽  
Ignacio F. Mata ◽  
Tobias Brünger ◽  
Dennis Lal ◽  
Hubert H. Fernandez
Keyword(s):  
Original Description ◽  
Rapid Onset ◽  
Acute Onset ◽  
Clinical Spectrum ◽  
Pes Cavus ◽  
Sodium Potassium ◽  
Pathogenic Variants ◽  
Alternating Hemiplegia Of Childhood ◽  
The Central Nervous System ◽  
Neurological Features

The Na+/K+ ATPases are Sodium-Potassium exchanging pumps, with a heteromeric α-β-γ protein complex. The α3 isoform is required as a rescue pump, after repeated action potentials, with a distribution predominantly in neurons of the central nervous system. This isoform is encoded by the ATP1A3 gene. Pathogenic variants in this gene have been implicated in several phenotypes in the last decades. Carriers of pathogenic variants in this gene manifest neurological and non-neurological features in many combinations, usually with an acute onset and paroxysmal episodes triggered by fever or other factors. The first three syndromes described were: (1) rapid-onset dystonia parkinsonism; (2) alternating hemiplegia of childhood; and, (3) cerebellar ataxia, pes cavus, optic atrophy, and sensorineural hearing loss (CAPOS syndrome). Since their original description, an expanding number of cases presenting with atypical and overlapping features have been reported. Because of this, ATP1A3-disorders are now beginning to be viewed as a phenotypic continuum representing discrete expressions along a broadly heterogeneous clinical spectrum.

scholarly journals Two Ears and Two (or More?) Devices: A Pediatric Case Study of Bilateral Profound Hearing Loss

2009 ◽  
Vol 13 (2) ◽  
pp. 107-123 ◽  
Author(s):  
Rosalie M. Uchanski ◽  
Lisa S. Davidson ◽  
Sharon Quadrizius ◽  
Ruth Reeder ◽  
Jamie Cadieux ◽  
...  
Keyword(s):  
Hearing Loss ◽  
Pediatric Case ◽  
Profound Hearing Loss

Variants in the ATP1A3 Gene Mutations within Severe Apnea Starting in Early Infancy: An Observational Study of Two Cases with a Possible Relation to Epileptic Activity

2018 ◽  
Vol 49 (05) ◽  
pp. 342-346 ◽  
Author(s):  
Niklas Holze ◽  
Andreas Baalen ◽  
Ulrich Stephani ◽  
Ingo Helbig ◽  
Hiltrud Muhle
Keyword(s):  
Neurological Disorders ◽  
Gene Mutations ◽  
Epileptic Seizures ◽  
Rapid Onset ◽  
Epileptic Activity ◽  
First Year ◽  
Pathogenic Variants ◽  
Alternating Hemiplegia Of Childhood ◽  
First Year Of Life ◽  
Atp1a3 Gene

AbstractMutations in the ATP1A3 gene are known to cause alternating hemiplegia of childhood (AHC) and rapid-onset dystonia parkinsonism (RDP). Both conditions are childhood-onset neurological disorders with distinct symptoms and different times of onset. ATP1A3 has also been associated with CAPOS syndrome (cerebellar ataxia, areflexia, pes cavus, optic atrophy, and sensorineural hearing loss). Within the various ATP1A3-related neurological syndromes, a specific genotype–phenotype correlation is starting to emerge. Several mutations such as the relatively common p.E815K pathogenic variant have been shown to strongly correlate with AHC, while others may cause both AHC and RDP. A significant subset of patients with AHC and RDP are reported to have epileptic seizures. Even though detailed clinical descriptions of seizures in childhood are rare, seizures involving apneic events seem to be frequent in ATP1A3-related neurological disorders. Here, we describe two children with unexplained severe apnea beginning around the first year of life and pathogenic variants in ATP1A3. We hypothesize that the symptoms are early-onset autonomic seizures related to the underlying pathogenic ATP1A3 variants.

scholarly journals De novo ATP1A3 variants cause polymicrogyria

2021 ◽  
Vol 7 (13) ◽  
pp. eabd2368
Author(s):  
Satoko Miyatake ◽  
Mitsuhiro Kato ◽  
Takuma Kumamoto ◽  
Tomonori Hirose ◽  
Eriko Koshimizu ◽  
...  
Keyword(s):  
De Novo ◽  
Sensorineural Deafness ◽  
Rapid Onset ◽  
Severe Form ◽  
Brain Diseases ◽  
Pes Cavus ◽  
Cortical Malformation ◽  
Alternating Hemiplegia Of Childhood ◽  
Whole Exome ◽  
Malformation Of Cortical Development

Polymicrogyria is a common malformation of cortical development whose etiology remains elusive. We conducted whole-exome sequencing for 124 patients with polymicrogyria and identified de novo ATP1A3 variants in eight patients. Mutated ATP1A3 causes functional brain diseases, including alternating hemiplegia of childhood (AHC), rapid-onset dystonia parkinsonism (RDP), and cerebellar ataxia, areflexia, pes cavus, optic nerve atrophy, and sensorineural deafness (CAPOS). However, our patients showed no clinical features of AHC, RDP, or CAPOS and had a completely different phenotype: a severe form of polymicrogyria with epilepsy and developmental delay. Detected variants had different locations in ATP1A3 and different functional properties compared with AHC-, RDP-, or CAPOS-associated variants. In the developing cerebral cortex of mice, radial neuronal migration was impaired in neurons overexpressing the ATP1A3 variant of the most severe patients, suggesting that this variant is involved in cortical malformation pathogenesis. We propose a previously unidentified category of polymicrogyria associated with ATP1A3 abnormalities.

What Clinicians Need to Know About Early Literacy Development in Children With Hearing Loss

2019 ◽  
Vol 50 (1) ◽  
pp. 16-33 ◽  
Author(s):  
Elizabeth Runnion ◽  
Shelley Gray
Keyword(s):  
Hearing Loss ◽  
Early Literacy ◽  
Skill Development ◽  
Reading Proficiency ◽  
Literacy Skills ◽  
Literacy Skill ◽  
Early Literacy Development ◽  
Literacy Skill Development ◽  
Children With Hearing Loss

PurposeChildren with hearing loss may not reach the same level of reading proficiency as their peers with typical development. Audiologists and speech-language pathologists (SLPs) have important roles to play in preventing this problem early in children's development. In this tutorial, we aim to communicate how the habilitation practices of audiologists and intervention services of SLPs can support early literacy skill development in children with hearing loss.MethodWe describe key findings from peer-reviewed research articles to provide a review of early literacy skill development, to explain the relationship between early literacy skills and conventional reading skills, and to highlight findings from early literacy skill intervention studies that included children with hearing loss who use spoken language. We conclude with a hypothetical case study to illustrate how audiologists and SLPs can support early literacy acquisition in children with hearing loss.ConclusionFindings from studies of young children with hearing loss suggest that a promising approach to improving reading outcomes is to provide explicit early literacy instruction and intervention.

OCCUPATIONAL HEARING LOSS IN INDIAN FORGING UNIT DUE TO IMPACT OF IMPULSIVE NOISE: A CASE STUDY

2018 ◽  
Vol 11 (4) ◽  
Author(s):  
Kamaljeet Bhambri ◽  
Ishbir Singh ◽  
Harwinder Singh ◽  
Tejeet Singh
Keyword(s):  
Hearing Loss ◽  
Impulsive Noise ◽  
Occupational Hearing Loss

The “Islamization of America”?

2018 ◽  
Author(s):  
Muna Ali
Keyword(s):  
Diverse Group ◽  
Religious Leaders

In addition to the diverse Muslims who invoke the narrative of “pure/true” Islam, there is an unlikely group of non-Muslims Americans who argue that rather than fringe extremist Muslims perverting Islam, it is actually the “pure/true” Islam followers who threaten America and Europe. This alarmist group consists of some conservatives, some political and religious leaders, some new atheist icons, and a cadre of former and current Muslims, many of whom claim to be feminists. This chapter examines the different ideological trends within this diverse group and explores how its members have constructed a narrative of the “Islamization of America.” Through a case study, the chapter demonstrates how this discourse shifted from the margins to the mainstream. It explores whether the rhetoric and actions this narrative inspires is Islamophobia, anti-Muslim racism, or merely a legitimate critique of Muslims and Islam; and the chapter argues that this narrative serves as a strong instrument in the racialization process of Muslims.

On Integration of Additive Manufacturing During the Design and Development of a Rehabilitation Robot: A Case Study

2015 ◽  
Vol 137 (11) ◽  
Author(s):  
Kaci E. Madden ◽  
Ashish D. Deshpande
Keyword(s):  
Additive Manufacturing ◽  
Neurological Disorders ◽  
Development Process ◽  
Mechanical Design ◽  
Rehabilitation Robotics ◽  
Critical Design ◽  
Rehabilitation Robots ◽  
Time Optimization ◽  
Hand Exoskeleton

The field of rehabilitation robotics has emerged to address the growing desire to improve therapy modalities after neurological disorders, such as a stroke. For rehabilitation robots to be successful as clinical devices, a number of mechanical design challenges must be addressed, including ergonomic interactions, weight and size minimization, and cost–time optimization. We present additive manufacturing (AM) as a compelling solution to these challenges by demonstrating how the integration of AM into the development process of a hand exoskeleton leads to critical design improvements and substantially reduces prototyping cost and time.

Purulent Otitis Media: Differences Between Populations in Different Environments

PEDIATRICS ◽  
1974 ◽  
Vol 53 (2) ◽  
pp. 135-136
Author(s):  
Patrick Manning ◽  
Mary Ellen Avery ◽  
Alan Ross
Keyword(s):  
Hearing Loss ◽  
Adverse Effects ◽  
Language Development ◽  
Otitis Media ◽  
Early Life ◽  
Educational Programs ◽  
Previous Issue ◽  
High Incidence ◽  
History Of ◽  
Tympanic Membranes

The paper by Kaplan and colleagues in a previous issue starts by emphasizing the unusually high incidence of otitis media among Eskimo children. Forty-one percent of their cohort of 489 Alaskan Eskimo children, followed for ten years, had perforations or scars of the tympanic membranes; significant hearing losses were present in 16% of the group. Among the 374 children with a history of otorrhea, 291 (78%) had their first attack before their second birthday. The adverse effects of hearing loss in early life on language development were underscored by the authors, who quite properly point out the need for special educational programs.

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