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Dublin Core
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Treatment of Symptoms in Children with Q3 Conditions Scoping Review Results
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<a href="http://doi.org/10.1002/ajmg.a.10236" target="_blank" rel="noreferrer noopener">http://doi.org/10.1002/ajmg.a.10236</a>
Dublin Core
The Dublin Core metadata element set is common to all Omeka records, including items, files, and collections. For more information see, http://dublincore.org/documents/dces/.
Title
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Further delineation of the behavioral and neurologic features in Costello syndrome
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American Journal of Medical Genetics Part A
Date
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2003
Subject
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Male; Child; Humans; Adolescent; Female; Child Preschool; Infant; Abnormalities Multiple/physiopathology/psychology; Intellectual Disability/physiopathology/psychology; behavioral problems; feeding difficulties; Costello syndrome; trajectory; characteristics; irritability; sleep disturbance
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Kawame H; Matsui M; Kurosawa K; Matsuo M; Masuno M; Ohashi H; Fueki N; Aoyama K; Miyatsuka Y; Suzuki K; Akatsuka A; Ochiai Y; Fukushima Y
Description
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To describe clinical and neurodevelopmental phenotypes of Costello syndrome, we performed a retrospective review of the clinical records and findings in 10 children with Costello syndrome. All patients showed significant postnatal growth retardation and severe feeding difficulties leading to failure to thrive from early infancy. All required tube feeding and some needed high-calorie formulas for variable periods. Developmental quotients/IQs in seven children were 50 or less, and three were in the mildly retarded range. Five had seizures. Remarkable manifestations not previously reported were the characteristic behavior in infancy. Although happy and sociable personality was always emphasized in the genetic literature, all children showed significant irritability, including hypersensitivity to sound and tactile stimuli, sleep disturbance, and excess shyness with strangers in infancy. Those symptoms usually disappeared around age 2-4 years. Other clinical signs included cardiac abnormalities (8), musculoskeletal abnormalities (10), ophthalmological manifestations (5), increased urinary vanillymandelic acid (VMA) and homovanillic acid (HVA) (3), rhabdomyosarcoma (1), laryngomalacia (1), and cryptorchidism (1). Only three girls had papillomata. Family histories were negative for Costello syndrome. In conclusion, we confirm the wide spectrum of mental function in patients with Costello syndrome, which ranges from severe to mild. During infancy Costello syndrome showed remarkable irritability with severe feeding problems, which attributes significant difficulties to the parents of affected children.
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<a href="http://doi.org/10.1002/ajmg.a.10236" target="_blank" rel="noreferrer noopener">10.1002/ajmg.a.10236</a>
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Article information provided for research and reference use only. PedPalASCNET does not hold any rights over the resource listed here. All rights are retained by the journal listed under publisher and/or the creator(s).
2003
Abnormalities Multiple/physiopathology/psychology
Adolescent
Akatsuka A
American Journal of Medical Genetics Part A
Aoyama K
behavioral problems
characteristics
Child
Child Preschool
costello syndrome
feeding difficulties
Female
Fueki N
Fukushima Y
Humans
Infant
Intellectual Disability/physiopathology/psychology
Irritability
Kawame H
Kurosawa K
Male
Masuno M
Matsui M
Matsuo M
Miyatsuka Y
Ochiai Y
Ohashi H
sleep disturbance
Suzuki K
Trajectory