The EEG in early diagnosis of the Angelman syndrome

1997 ◽  
Vol 103 (1) ◽  
pp. 117
Author(s):  
J Östergaard
2009 ◽  
Vol 120 (4) ◽  
pp. e143
Author(s):  
M. Garcia-Femandez ◽  
C. Garcia de Leonardo Egatz ◽  
E. Villalibre-Valderrey ◽  
F.J. Martinez-Orozco

1999 ◽  
Vol 3 (6) ◽  
pp. A56
Author(s):  
P. Berquin ◽  
G. Morin ◽  
F. Wallois ◽  
J. Khater-Boidin ◽  
M. Mathieu

2015 ◽  
Vol 24 (3) ◽  
pp. 106-113 ◽  
Author(s):  
Stephen N. Calculator

Purpose To provide an overview of communication characteristics exhibited by individuals with Angelman Syndrome (AS) and special considerations associated with the design and implementation of augmentative and alternative communication (AAC) programs. Method Results of recent studies exploring individuals' uses of AAC are reviewed, with particular emphasis on factors related to individuals' acceptance and successful uses of AAC systems. Results Not applicable Conclusion Despite their inconsistent access to practices previously found to foster individuals' acceptance of AAC systems, individuals with AS demonstrate the ability to use AAC systems, including high-tech AAC devices, successfully.


2014 ◽  
Vol 24 (1) ◽  
pp. 11-18
Author(s):  
Andrea Bell ◽  
K. Todd Houston

To ensure optimal auditory development for the acquisition of spoken language, children with hearing loss require early diagnosis, effective ongoing audiological management, well fit and maintained hearing technology, and appropriate family-centered early intervention. When these elements are in place, children with hearing loss can achieve developmental and communicative outcomes that are comparable to their hearing peers. However, for these outcomes to occur, clinicians—early interventionists, speech-language pathologists, and pediatric audiologists—must participate in a dynamic process that requires careful monitoring of countless variables that could impact the child's skill acquisition. This paper addresses some of these variables or “red flags,” which often are indicators of both minor and major issues that clinicians may encounter when delivering services to young children with hearing loss and their families.


Urology ◽  
2020 ◽  
Author(s):  
Angelena Edwards ◽  
Niccolo M. Passoni ◽  
Rebecca Collins ◽  
Smitha Vidi ◽  
Jyothsna Gattineni ◽  
...  

2009 ◽  
Vol 79 (56) ◽  
pp. 297-307 ◽  
Author(s):  
Laila Hussein ◽  
Sahar Abdel Aziz ◽  
Salwa Tapouzada ◽  
Boehles

Objective:Cobalamin (B12) deficiency has been reported in infants born to mothers with low cobalamin intake. Early diagnosis of vitamin B12 deficiency in infants is critical for the prevention of neurobehavioral disorders. We investigated the relationship between serum vitamin B12 level in newborns and in their healthy mothers who consumed an omnivorous diet. Anthropometry was studied longitudinally to assess the growth velocity of the infants. Urinary methylmalonic acid (MMA) excretion of 6-month old infants was compared retrospectively as the biomarker correlated with the initial serum vitamin B12 concentrations. Methods: Serum cobalamin and blood hemoglobin were determined in 84 pairs of newborns and their mothers. Urinary MMA excretion was measured in the same subjects during the first 6 months of the post partum period. Results: At birth, median serum cobalamin levels were 152.0 pmol/L in the mothers and 296.6 pmol/L in the newborns. Maternal and neonatal serum cobalamin levels had no effect on growth velocity during the first six months of postnatal life. Serum maternal and neonatal cobalamin levels were inversely associated with urinary MMA excretion. Conclusion: Early diagnosis of vitamin B12 status in neonates and infants is crucial, particularly in nutritionally deprived areas. Biochemical measurement of plasma cobalamin or its metabolic marker MMA is highly recommended. Urinary MMA measurement in cobalamin diagnostics provides an advantage in that blood sampling is not required. A vitamin B12 taskforce should be created to alleviate vitamin deficiency and its negative consequences.


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