1
40
3
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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
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/10.1186/s11689-016-9145-x" target="_blank" rel="noreferrer noopener">http://doi.org/10.1186/s11689-016-9145-x</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
A name given to the resource
Development, behavior, and biomarker characterization of Smith-Lemli-Opitz syndrome: An update
Publisher
An entity responsible for making the resource available
Journal of Neurodevelopmental Disorders
Date
A point or period of time associated with an event in the lifecycle of the resource
2016
Subject
The topic of the resource
adolescent; Autism; parent; development; cognition; behavior; Developmental delay; problem behavior; priority journal; case study; interpersonal communication; preschool child; observational study; unclassified drug; childhood; human; article; child; female; male; adult; clinical article; young adult; automutilation; 7 dehydrocholesterol/ec [Endogenous Compound]; 8 dehydrocholesterol/ec [Endogenous Compound]; adaptive behavior; aggression; cerebrospinal fluid level; child rearing; cholesterol/ec [Endogenous Compound]; intelligence quotient; Smith Lemli Opitz syndrome; Smith-Lemli-Opitz syndrome; socialization; Stanford-Binet Intelligence Scale; Sterols; walking; behavior; tone and motor problems; trajectory; characteristics; aggression; development; delayed development
Creator
An entity primarily responsible for making the resource
Thurm A; Tierney E; Farmer C; Albert P; Joseph L; Swedo S; Bianconi S; Bukelis I; Wheeler C; Sarphare G; Lanham D; Wassif C A; Porter F D
Description
An account of the resource
Background: Smith-Lemli-Opitz syndrome (SLOS) is an autosomal recessive inborn error of cholesterol metabolism syndrome with neurocognitive manifestations. SLOS is the result of mutations in the gene encoding the 7-dehydrocholesterol reductase, which results in the elevation of the cholesterol precursor 7-dehydrocholesterol (7-DHC). Previous reports indicate that intellectual disability, behavioral disturbances, and autism symptoms are frequently part of the SLOS behavioral phenotype. In the current study, we characterize the developmental history and current behavior of 33 individuals with SLOS aged 4 to 23 years and report on biomarkers 7-DHC and 8-DHC in relation to cognition and behavior. Methods: This was an observational case series, wherein participants with SLOS underwent extensive behavioral evaluation of cognitive function, adaptive function, autism symptoms, and problem behaviors, in addition to parent report of developmental milestones. Serum and CSF were contemporaneously obtained from the majority of participants. Results: Developmental milestones such as walking, talking, and toileting were uniformly delayed. Overall levels of cognitive and adaptive functioning were low; no participant received adaptive behavior scores in the average range, and the mean level of cognitive functioning in the full sample was in the moderate range of impairment. Aggressive behavior was present in nearly half of participants. Although the majority of participants had elevated scores on the gold standard autism diagnostic instruments, only about half of participants received a clinical diagnosis of autism spectrum disorder. Finally, while CSF cholesterol was not found to correlate with cognitive or adaptive functioning, both serum and CSF 7-DHC and 8-DHC (and their ratios with cholesterol) were moderately and negatively correlated with functioning in this group. Conclusions: A history of developmental delay, followed by intellectual disability, is common in individuals with SLOS. Although autism spectrum disorder appears to be a frequent diagnosis in this population, it is apparent that the low level of functioning observed in SLOS may artificially inflate scores on standard autism assessments. Our findings further support that cholesterol precursors 7-DHC and 8-DHC are important biomarkers of the level of functioning in SLOS, especially regarding cognitive abilities, and thus may be to explore as mediators within the context of treatment trials.
Identifier
An unambiguous reference to the resource within a given context
<a href="http://doi.org/10.1186/s11689-016-9145-x" target="_blank" rel="noreferrer noopener">10.1186/s11689-016-9145-x</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
7 dehydrocholesterol/ec [Endogenous Compound]
8 dehydrocholesterol/ec [Endogenous Compound]
adaptive behavior
Adolescent
Adult
Aggression
Albert P
Article
Autism
automutilation
Behavior
Bianconi S
Bukelis I
Case Study
cerebrospinal fluid level
characteristics
Child
Child Rearing
childhood
cholesterol/ec [Endogenous Compound]
Clinical Article
Cognition
delayed development
development
Developmental delay
Farmer C
Female
Human
Intelligence Quotient
Interpersonal Communication
Joseph L
Journal of Neurodevelopmental Disorders
Lanham D
Male
Observational Study
Parent
Porter F D
Preschool Child
Priority Journal
problem behavior
Sarphare G
Smith Lemli Opitz syndrome
Smith-Lemli-Opitz syndrome
Socialization
Stanford-Binet Intelligence Scale
Sterols
Swedo S
Thurm A
Tierney E
tone and motor problems
Trajectory
Unclassified Drug
Walking
Wassif C A
Wheeler C
Young Adult
-
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.pediatrneurol.2017.01.019" target="_blank" rel="noreferrer noopener">http://doi.org/10.1016/j.pediatrneurol.2017.01.019</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
A name given to the resource
Preliminary Study of Neurodevelopmental Outcomes and Parenting Stress in Pediatric Mitochondrial Disease
Publisher
An entity responsible for making the resource available
Pediatric Neurology
Date
A point or period of time associated with an event in the lifecycle of the resource
2017
Subject
The topic of the resource
emotion; child behavior; priority journal; intellectual impairment/dm [Disease Management]; prognosis; preschool child; parental stress; human; article; child; female; male; quality of life; clinical article; daily life activity; disease severity; aggression; intelligence quotient; childhood disease/dm [Disease Management]; comorbidity; Leigh disease/dm [Disease Management]; MELAS syndrome/dm [Disease Management]; nervous system development; problem behavior/dm [Disease Management]; anxiety disorder/dm [Disease Management]; attention disturbance/dm [Disease Management]; brain atrophy/dm [Disease Management]; delinquency; depression/dm [Disease Management]; drug resistant epilepsy/dm [Disease Management]; drug resistant epilepsy/dr [Drug Resistance]; intelligence; lactic acidosis/dm [Disease Management]; muscle disease/dm [Disease Management]; neuroimaging; nuclear magnetic resonance imaging; postnatal depression/dm [Disease Management]; psychomotor development; sleep disorder/dm [Disease Management]; social problem; somatization/dm [Disease Management]; thinking impairment/dm [Disease Management]; behavioral problems; Leigh syndrome; mitochondrial disorders; MELAS syndrome; trajectory; characteristics
Creator
An entity primarily responsible for making the resource
Eom S; Lee Y M
Description
An account of the resource
Background Little is known regarding the neuropsychological profiles of pediatric patients with mitochondrial diseases or their parents, information that is crucial for improving the quality of life (QOL) for both patients and parents. We aimed to delineate neurodevelopment and psychological comorbidity in children with mitochondrial diseases in the preliminary investigation of adequate intervention methods, better prognoses, and improved QOL for both patients and parents. Methods Seventy children diagnosed with mitochondrial diseases were neuropsychologically evaluated. Neurocognitive (development, intelligence) and psychological (behavior, daily living function, maternal depression, parenting stress) functions were analyzed. Clinical variables, including the first symptom, epileptic classification, organ involvement, lactic acidosis, brain magnetic resonance imaging findings, muscle pathology, biochemical enzyme assay results, and syndromic diagnosis of mitochondrial diseases, were also reviewed. Results Prediagnostic assessments indicated that cognitive and psychomotor developments were significantly delayed. Group mean full scale intelligence quotient (IQ) scores indicated mild levels of intellectual disability, borderline levels of verbal IQ impairment, and mild levels of intellectual disability on performance IQ. Many children exhibited clinically significant levels of behavioral problems, whereas mothers of children with mitochondrial diseases exhibited significant increases in parenting stress relative to mothers of healthy children. Furthermore, 65% of mothers exhibited significant levels of depression. Early onset of the first symptoms, diffuse brain atrophy, and drug-resistant epilepsy negatively influenced neurodevelopmental and adaptive functions. Conclusion Better understanding of the functional levels and profiles of neurodevelopment and psychological comorbidity in children with mitochondrial diseases in the prediagnostic period is essential for adequate support and QOL of children with mitochondrial diseases and their parents.
Identifier
An unambiguous reference to the resource within a given context
<a href="http://doi.org/10.1016/j.pediatrneurol.2017.01.019" target="_blank" rel="noreferrer noopener">10.1016/j.pediatrneurol.2017.01.019</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).
2017
Aggression
anxiety disorder/dm [Disease Management]
Article
attention disturbance/dm [Disease Management]
behavioral problems
brain atrophy/dm [Disease Management]
characteristics
Child
Child Behavior
childhood disease/dm [Disease Management]
Clinical Article
Comorbidity
daily life activity
delinquency
depression/dm [Disease Management]
Disease Severity
drug resistant epilepsy/dm [Disease Management]
drug resistant epilepsy/dr [Drug Resistance]
Emotion
Eom S
Female
Human
intellectual impairment/dm [Disease Management]
Intelligence
Intelligence Quotient
lactic acidosis/dm [Disease Management]
Lee Y M
Leigh disease/dm [Disease Management]
Leigh syndrome
Male
MELAS syndrome
MELAS syndrome/dm [Disease Management]
mitochondrial disorders
muscle disease/dm [Disease Management]
nervous system development
neuroimaging
nuclear magnetic resonance imaging
Parental Stress
Pediatric Neurology
postnatal depression/dm [Disease Management]
Preschool Child
Priority Journal
problem behavior/dm [Disease Management]
Prognosis
psychomotor development
Quality Of Life
sleep disorder/dm [Disease Management]
social problem
somatization/dm [Disease Management]
thinking impairment/dm [Disease Management]
Trajectory
-
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.
Citation List Month
Backlog
URL Address
<a href="http://doi.org/10.1016/j.rasd.2011.06.015" target="_blank" rel="noreferrer">http://doi.org/10.1016/j.rasd.2011.06.015</a>
<a href="http://gateway.webofknowledge.com/gateway/Gateway.cgi?GWVersion=2&SrcApp=Summon&SrcAuth=ProQuest&DestApp=WOS&DestLinkType=FullRecord&UT=000297826400048" target="_blank" rel="noreferrer">http://gateway.webofknowledge.com/gateway/Gateway.cgi?GWVersion=2&SrcApp=Summon&SrcAuth=ProQuest&DestApp=WOS&DestLinkType=FullRecord&UT=000297826400048</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
A name given to the resource
Depression and anxiety symptoms in children and adolescents with autism spectrum disorders without intellectual disability
Publisher
An entity responsible for making the resource available
Research In Autism Spectrum Disorders
Date
A point or period of time associated with an event in the lifecycle of the resource
2012
Subject
The topic of the resource
Prevalence; Comorbidity; Depression; Anxiety; Children; Adolescents; Autism; DEVELOPMENTAL; PSYCHIATRY; Psychology; ASPERGER-SYNDROME; At Risk Persons; Depression/psychology; DIAGNOSTIC INTERVIEW; Education; FRIENDSHIP; Intelligence Quotient; parent; People; PERVASIVE DEVELOPMENTAL DISORDERS; PSYCHIATRIC-DISORDERS; Rehabilitation; Special; Symptoms (Individual Disorders); VERSION
Creator
An entity primarily responsible for making the resource
Strang JF; Kenworthy L; Daniolos P; Case L; Wills MC; Martin A; Wallace GL
Description
An account of the resource
Recent studies have shown that rates of depression and anxiety symptoms are elevated among individuals with autism spectrum disorders (ASDs) of various ages and IQs and that depression/anxiety symptoms are associated with higher IQ and fewer ASD symptoms. In this study which examined correlates of depression and anxiety symptoms in the full school-age range of children and adolescents (age 6-18) with ASDs and IQs greater than or equal to 70 (n = 95), we also observed elevated rates of depression/anxiety symptoms, but we did not find higher IQ or fewer ASD symptoms among individuals with ASDs and depression or anxiety symptoms. These findings indicate an increased risk for depression/anxiety symptoms in children and adolescents with ASDs without intellectual disability, regardless of age, IQ, or ASD symptoms. (Contains 2 tables and 1 figure.)
Identifier
An unambiguous reference to the resource within a given context
<a href="http://doi.org/10.1016/j.rasd.2011.06.015" target="_blank" rel="noreferrer">10.1016/j.rasd.2011.06.015</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).
Type
The nature or genre of the resource
Journal Article
2012
Adolescents
anxiety
ASPERGER-SYNDROME
At Risk Persons
Autism
Backlog
Case L
Children
Comorbidity
Daniolos P
Depression
Depression/psychology
DEVELOPMENTAL
DIAGNOSTIC INTERVIEW
Education
FRIENDSHIP
Intelligence Quotient
Journal Article
Kenworthy L
Martin A
Parent
People
PERVASIVE DEVELOPMENTAL DISORDERS
Prevalence
PSYCHIATRIC-DISORDERS
Psychiatry
Psychology
Rehabilitation
Research In Autism Spectrum Disorders
Special
Strang JF
Symptoms (Individual Disorders)
VERSION
Wallace GL
Wills MC