Your browser doesn't support javascript.
loading
Show: 20 | 50 | 100
Results 1 - 2 de 2
Filter
Add more filters










Database
Language
Publication year range
1.
J Huntingtons Dis ; 7(3): 355-366, 2018.
Article in English | MEDLINE | ID: mdl-30040737

ABSTRACT

BACKGROUND: In clinical practice, several strategies and pharmacological options are available to treat neuropsychiatric symptoms of Huntington disease (HD). However, there is currently insufficient data for evidence-based guidelines on the management of these common symptoms. OBJECTIVE: We aimed to develop expert-based recommendations regarding the management of agitation, anxiety, apathy, psychosis, and sleep disorders. METHODS: Guideline development was based on a modified Institute of Medicine guideline process that accounted for a lack of evidence base. An international committee of 11 multidisciplinary experts proposed a series of statements regarding the description and management of each symptom. Statement assessment and validation was performed using a web-based survey tool and 84 international HD experts (neurologists and psychiatrists) who assessed the statements and indicated their level of agreement. RESULTS: High-level agreement (≥85% experts strongly agreed or agreed) was reached for 107 of the 110 statements that have been incorporated into the expert-based clinical recommendations presented herein. CONCLUSIONS: Clinical statements to guide the routine management of agitation, anxiety, apathy, psychosis, and sleep disorders in HD have been developed. Although not specifically tested in the HD population, clinical experience has shown that most of the neuropsychiatric symptoms discussed, when considered in isolation are treatable using pharmacologic and non-pharmacologic strategies developed for use in other populations. However, the management of neuropsychiatric symptoms in HD can be complex because neuropsychiatric symptoms often co-exist and treatment decisions should be adapted to cover all symptoms while limiting polypharmacy.


Subject(s)
Huntington Disease/psychology , Huntington Disease/therapy , Anxiety/epidemiology , Anxiety/therapy , Disease Management , Humans , Huntington Disease/epidemiology , Practice Guidelines as Topic , Prevalence , Psychomotor Agitation/epidemiology , Psychomotor Agitation/therapy , Psychotic Disorders/epidemiology , Psychotic Disorders/therapy , Sleep Wake Disorders/epidemiology , Sleep Wake Disorders/therapy
2.
Am J Med Genet A ; 134(3): 282-9, 2005 Apr 30.
Article in English | MEDLINE | ID: mdl-15754353

ABSTRACT

Array-based copy number analysis has recently emerged as a rapid means of mapping complex and/or subtle chromosomal abnormalities. We have compared two such techniques, using bacterial artificial chromosome (BAC) and single nucleotide polymorphism (SNP) arrays in the evaluation of a 45-year-old woman with dysmorphic features, mental retardation, psychosis, and an unbalanced derivative chromosome 18, (46,XX, der(18)t(18;?)(p12;?)). Both array-based methods demonstrated that the additional material on chromosome 18 was of 5p origin. The 5p duplication mapped telomeric to 25.320 Mb (BAC array) and 25.607 Mb (SNP array), corresponding to the band 5p14.1. Both BAC and SNP arrays also showed a deletion involving chromosome 18p extending telomeric from 8.437 Mb (BAC array) and 8.352 Mb (SNP array), corresponding to the band 18p11.23. Molecular cytogenetic mapping using fluorescence in situ hybridization (FISH) supported the array findings and further refined the breakpoint regions, confirming that the BAC and SNP chips were both useful in this regard. Both case reports and linkage analyses have implicated these chromosomal intervals in psychosis. The array-based experiments were completed over the course of several days. While these methods do not eliminate the requirement for traditional fine-mapping, they provide an efficient approach to identifying the origin and extent of deleted and duplicated material in chromosomal rearrangements.


Subject(s)
Chromosomes, Human, Pair 18/genetics , Chromosomes, Human, Pair 5/genetics , Nucleic Acid Hybridization/methods , Psychotic Disorders/genetics , Translocation, Genetic , Chromosome Banding , Chromosomes, Artificial, Bacterial/genetics , Female , Humans , In Situ Hybridization, Fluorescence , Karyotyping , Magnetic Resonance Imaging , Middle Aged , Polymorphism, Single Nucleotide/genetics , Psychotic Disorders/pathology
SELECTION OF CITATIONS
SEARCH DETAIL
...