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40
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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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Treatment of Symptoms in Children with Q3 Conditions Scoping Review Results
Text
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URL Address
<a href="http://doi.org/10.1002/mds.23478" target="_blank" rel="noreferrer noopener">http://doi.org/10.1002/mds.23478</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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Levodopa is not a useful treatment for Lesch-Nyhan disease
Publisher
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Movement Disorders
Date
A point or period of time associated with an event in the lifecycle of the resource
2011
Subject
The topic of the resource
behavior problems; tone and motor problems; Lesch-Nyhan syndrome; pharmacologic intervention; levodopa; levodopa-dopa; carbidopa
Creator
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Bloem B R; Schretlen D J; Jinnah H A; Visser J E
Description
An account of the resource
Lesch-Nyhan disease (LND) is characterized by dystonia, cognitive abnormalities, and self-injurious behavior. No effective therapies are available. LND is associated with a presynaptic dopaminergic deficit, but the reported effects of dopamine replacement therapy are conflicting. The current prospective open-label study assesses the effects of levodopa on both neurological and behavioral features of LND. All 6 study participants discontinued levodopa early, due to lack of effect and sometimes worsening of motor function. The results provide important clues for pathophysiological mechanisms and suggestions for future treatment options.Copyright © 2011 Movement Disorder Society.
Identifier
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<a href="http://doi.org/10.1002/mds.23478" target="_blank" rel="noreferrer noopener">10.1002/mds.23478</a>
Rights
Information about rights held in and over the resource
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).
2011
behavior problems
Bloem B R
carbidopa
Jinnah H A
Lesch-Nyhan syndrome
levodopa
levodopa-dopa
Movement Disorders
pharmacologic intervention
Schretlen D J
tone and motor problems
Visser J E
-
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
A name given to the resource
Treatment of Symptoms in Children with Q3 Conditions Scoping Review Results
Text
A resource consisting primarily of words for reading. Examples include books, letters, dissertations, poems, newspapers, articles, archives of mailing lists. Note that facsimiles or images of texts are still of the genre Text.
URL Address
<a href="http://doi.org/10.1016/j.ymgme.2016.04.012" target="_blank" rel="noreferrer noopener">http://doi.org/10.1016/j.ymgme.2016.04.012</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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A double-blind, placebo-controlled, crossover trial of the selective dopamine D1 receptor antagonist ecopipam in patients with Lesch-Nyhan disease
Publisher
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Molecular Genetics and Metabolism
Date
A point or period of time associated with an event in the lifecycle of the resource
2016
Subject
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behavioral problems; Lesch-Nyhan syndrome; pharmacologic intervention; ecopipam; self-injury
Creator
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Khasnavis T; Torres R J; Sommerfeld B; Puig J G; Chipkin R; Jinnah H A
Description
An account of the resource
Lesch-Nyhan disease (LND) is a genetic disorder that has characteristic metabolic, neurologic, and behavioral features. There are multiple behavioral problems including impulsivity, aggressiveness, and severe recurrent self-injurious behavior (SIB). This last behavior varies considerably across subjects and may encompass self-biting, self-hitting, scratching, head banging, and other injurious actions. Current treatments for SIB involve behavioral extinction, sedatives, physical restraints, and removal of teeth. Because these interventions do not reliably control SIB, better treatments are urgently needed. Animal studies have suggested that D1-dopamine receptor antagonists such as ecopipam may suppress SIB. These observations have led to proposals that such drugs might provide effective treatment for in LND. The current study describes the results of a double-blind, three-period, crossover trial of a single dose of ecopipam in subjects with LND. The study was designed for 20 patients, but it was terminated after recruitment of only 10 patients, because interim analysis revealed unanticipated side effects. These side effects were most likely related to starting with a single large dose without any titration phase. Despite the limited data due to early termination, the drug appeared to reduce SIB in most cases. Subjects who completed the trial were eligible to continue the drug in an open-label extension phase lasting a year, and one patient who elected to continue has maintained a striking reduction in SIB for more than a year with no apparent side effects. These results suggest ecopipam could be a useful treatment for SIB in, but further studies are needed to establish an appropriate dosing regimen.
Identifier
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<a href="http://doi.org/10.1016/j.ymgme.2016.04.012" target="_blank" rel="noreferrer noopener">10.1016/j.ymgme.2016.04.012</a>
Rights
Information about rights held in and over the resource
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).
2016
behavioral problems
Chipkin R
ecopipam
Jinnah H A
Khasnavis T
Lesch-Nyhan syndrome
Molecular Genetics and Metabolism
pharmacologic intervention
Puig J G
self-injury
Sommerfeld B
Torres R J
-
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
A name given to the resource
Treatment of Symptoms in Children with Q3 Conditions Scoping Review Results
Text
A resource consisting primarily of words for reading. Examples include books, letters, dissertations, poems, newspapers, articles, archives of mailing lists. Note that facsimiles or images of texts are still of the genre Text.
URL Address
<a href="http://doi.org/10.1017/S0012162205001374" target="_blank" rel="noreferrer noopener">http://doi.org/10.1017/S0012162205001374</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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Behavioral aspects of Lesch-Nyhan disease and its variants
Publisher
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Developmental Medicine and Child Neurology
Date
A point or period of time associated with an event in the lifecycle of the resource
2005
Subject
The topic of the resource
Adolescent; Adult; Aggression; Anxiety; Child; Depression; Female; Humans; Lesch-Nyhan Syndrome/px [Psychology]; Male; Self-Injurious Behavior; self-injury; Severity of Illness Index; alertness; behavioral problems; Lesch-Nyhan syndrome; trajectory; characteristics; distractibility
Creator
An entity primarily responsible for making the resource
Schretlen D J; Ward J; Meyer S M; Yun J; Puig J G; Nyhan W L; Jinnah H A; Harris J C
Description
An account of the resource
Self-injury is a defining feature of lesch-nyhan disease (LND) but does not occur in the less severely affected Lesch-Nyhan variants (LNV). The aim of this study was to quantify behavioral and emotional abnormalities in LND and LNV. Thirty-nine informants rated 22 patients with LND (21 males, 1 female), 11 males with LNV, and 11 healthy controls (HC; 10 males, 1 female) using two well-validated rating scales. The age of patients with LND ranged from 12 years 7 months to 38 years 3 months (mean 22 y 11 mo; sd 7 y 8 mo), whereas the age range of those with LNV was 12 years 9 months to 65 years (mean 30 y 7 mo; sd 15 y 2 mo), and the healthy controls were aged 12 years 4 months to 31 years 3 months (mean 17 y 10 mo; sd 5 y 7 mo). Behavioral ratings were based on the Child Behavior Checklist and the American Association On Mental Retardation's Adaptive Behavior Scale--Residential And Community, 2nd edition. Statistical analyses revealed that patients with LND showed severe self-injury together with problematic aggression, anxious-depressed symptoms, distractibility, motor stereotypes, and disturbing interpersonal behaviors. Patients with LNV were rated as being intermediate between the HC and LND groups on all behavior scales. Although the LNV group did not differ from hcs on most scales, their reported attention problems were as severe as those found in LND. We conclude that self-injurious and aggressive behaviors are nearly universal and that other behavioral abnormalities are common in LND. Although patients with LNV typically do not self-injure or display severe aggression, attention problems are common and a few patients demonstrate other behavioral anomalies.
Identifier
An unambiguous reference to the resource within a given context
<a href="http://doi.org/10.1017/S0012162205001374" target="_blank" rel="noreferrer noopener">10.1017/S0012162205001374</a>
Rights
Information about rights held in and over the resource
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).
2005
Adolescent
Adult
Aggression
alertness
anxiety
behavioral problems
characteristics
Child
Depression
Developmental Medicine and Child Neurology
distractibility
Female
Harris J C
Humans
Jinnah H A
Lesch-Nyhan syndrome
Lesch-Nyhan Syndrome/px [Psychology]
Male
Meyer S M
Nyhan W L
Puig J G
Schretlen D J
Self-Injurious behavior
self-injury
Severity Of Illness Index
Trajectory
Ward J
Yun J