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1.
Res Dev Disabil ; 33(2): 315-23, 2012.
Article in English | MEDLINE | ID: mdl-22100351

ABSTRACT

BACKGROUND: The informant-based Anxiety, Depression And Mood Scale was translated into Dutch and its feasibility, reliability and validity in older adults (aged ≥ 50 years) with intellectual disabilities (ID) was studied. METHOD: Test-retest (n = 93) and interrater reliability (n = 83), and convergent (n = 202 and n = 787), discriminant (n = 288) and criterion validity (n = 288) were studied. Convergent and criterion validity were studied for the Depressed mood and General anxiety subscales. Subgroups based on level of ID and autism have been made to study the criterion validity. Psychiatric diagnoses based on the PAS-ADD Interview were used as gold standard. RESULTS: All subscales had good internal consistency (α ≥ 0.80), excellent test-retest reliability (ICC ≥ 0.75) and good interrater reliability (ICC ≥ 0.74), except for the Social avoidance subscale (ICC = 0.57). The Depressed mood subscale showed low correlation (r = 0.44) with the self-report Inventory of Depressive Symptomatology, high correlation with the informant-report Signalizing Depression List for people with ID (r = 0.71) and no correlation with the PAS-ADD's sleep disorders subscale (r = 0.15). Its sensitivity ranged from 73 to 80%, and its specificity from 71 to 79%. The General anxiety subscale showed low correlation with the self-report scales: Glasgow Anxiety Scale (r= 0.37) and Hospital Anxiety and Depression Scale (r = 0.41), and no correlation with the sleep disorder subscale (r = 0.02). Its sensitivity ranged from 67 to 100%, and its specificity from 48 to 81%. CONCLUSIONS: The Dutch translation of the ADAMS is reliable and sufficiently valid to screen for anxiety and depression in older people with ID.


Subject(s)
Anxiety Disorders/diagnosis , Depressive Disorder/diagnosis , Intellectual Disability/psychology , Language , Psychiatric Status Rating Scales/standards , Affect , Aged , Aged, 80 and over , Anxiety Disorders/psychology , Depressive Disorder/psychology , Feasibility Studies , Humans , Middle Aged , Netherlands , Reproducibility of Results , Severity of Illness Index
2.
Eur J Hum Genet ; 19(1): 102-7, 2011 Jan.
Article in English | MEDLINE | ID: mdl-20736978

ABSTRACT

Genome-wide high-resolution array analysis is rapidly becoming a reliable method of diagnostic investigation in individuals with mental retardation and congenital anomalies, leading to the identification of several novel microdeletion and microduplication syndromes. We have identified seven individuals with duplication on chromosome 14q11.2q13.1, who exhibited idiopathic developmental delay and cognitive impairment, severe speech delay, and developmental epilepsy. Among these cases, the minimal common duplicated region on chromosome 14q11.2q13.1 includes only three genes, FOXG1, C14orf23, and PRKD1. We propose that increased dosage of Forkhead Box G1 (FOXG1) is the best candidate to explain the abnormal neurodevelopmental phenotypes observed in our patients. Deletions and inactivating mutations of FOXG1 have been associated with a Rett-like syndrome characterized by hypotonia, irritability, developmental delay, hand stereotypies, and deceleration of head growth. FOXG1, encoding a brain-specific transcription factor, has an important role in the developing brain. In fact, in vivo studies in chicken brain demonstrated that overexpression of FOXG1 results in thickening of the neuroepithelium and outgrowth of the telencephalon and mesencephalum, secondary to a reduction in neuroepithelial cell apoptosis.


Subject(s)
Chromosomes, Human, Pair 14/genetics , Developmental Disabilities/genetics , Epilepsy/genetics , Forkhead Transcription Factors/genetics , Gene Duplication , Intellectual Disability/genetics , Language Development Disorders/genetics , Nerve Tissue Proteins/genetics , Adult , Child, Preschool , Comparative Genomic Hybridization , Female , Humans , Infant , Male , Oligonucleotide Array Sequence Analysis
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