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PubMed2004

Wrist actigraphy in estimation of sleep and wake in intellectually disabled subjects with motor handicaps.

BACKGROUND AND PURPOSE: We studied the applicability of wrist actigraphy to sleep-wake estimation in patients with motor handicaps. PATIENTS AND METHODS: Concomitant polysomnographic and actigraphic recordings (16-24 h) were compared in three groups: normally moving subjects with normal sleep (n=10), sleep-disordered subjects without motor handicaps (n=13) and sleep-disordered patients with different motor disabilities (n=16). The motor abilities of the subjects were determined by clinical evaluation using a grading scale from 0 to 10. Their actual daily activity was calculated from the recordings as average activity scores. RESULTS: In the healthy subjects, the mean difference between actigraphic and polysomnographic total sleep estimation was negligible (-1 min), while in both sleep-disordered groups, sleep was highly overestimated by actigraphy. There was a significant correlation between the motor ability score and the discrepancy between actigraphy and polysomnography, but individual data points were highly scattered. A more consistent correlation was found between the average activity score/min in actigrams and the discrepancy of actigraphic with polysomnographic total sleep estimation (Spearman's r=-0.58, P=0.0001, n=39). When the recordings with very low average activity score were rejected from the analyses (two patients without and six with motor handicaps), the overestimation of sleep by actigraphy was reduced but it still remained in both sleep-disordered groups. The mean differences of total sleep between actigraphy and polysomnography were 72 and 121 min and the rank order correlation coefficients 0.80 and 0.71 in patients without and with motor handicaps, respectively. The median discrepancy in total sleep estimation was 6% in both sleep-disordered groups. CONCLUSIONS: In subjects with rudimentary motor abilities, a standard actigraphy can produce a signal, which is related to the amount of sleep scored in polysomnograms. The sleep parameters obtained by the two methods are not equal, however. The inspection of actigrams is more reliable than the clinical scaling of motor abilities in predicting the applicability of wrist actigraphy.

Adult↗
PubMed2006

[Experimental models used in research into genetic disorders that involve intellectual disability].

INTRODUCTION: A basic principle of molecular and clinical medicine states that the function of the organs and the cells they are made up of is determined by the overall set of specific proteins. Therefore, the function of each organ depends on the molecules present in each cell, and hence it comes as no surprise to find that when tissue function is altered, different changes have taken place in the proteins. In the nervous system there are numerous examples of changes in proteins that correlate with functional alterations, either during normal or pathological development. DEVELOPMENT: In order to understand these relations, and to establish models in which to study the aetiopathogenesis of the disease, it is necessary to direct steady synthesis or to suppress synthesis in the brain of the protein that is potentially involved in the development of the disease. In consequence, it is possible to determine whether the presence or the absence of the protein is the direct or indirect cause of the effects; this is one of the main goals that must be achieved in order to enable researchers to define potential therapeutic targets in hereditary diseases. In order to manipulate the specific protein causing a pathology, we use experimental animal models as essential research tools, since they enable us to determine which mechanisms are altered and how the function of a particular protein affects the mechanisms being studied. CONCLUSIONS: Suppressing a gene or its over-expression in models using genetically modified mice will provide us with a means of modifying the genome and, eventually, the protein in the different tissues as well as in the nervous system in an attempt to imitate the genetic pathology that involves mental retardation. By controlling or suppressing the expression of a protein in the brain it becomes possible to remodel the functional profile of the tissue and study the consequences of molecular genetic manipulation, together with the biochemical, cytological and physiological processes, under normal basal conditions and under specific stimuli or conditions such as stress.

Animals↗
PubMed2026

Two iPSC lines with frameshift mutations in FTSJ1 as models for X-linked non-syndromic intellectual disability.

CRISPR/Cas9 was used to introduce two different FTSJ1 frameshift mutations into an existing human male iPSC line (UMGWi004-B). No additional genomic or chromosomal changes were detected. The modified iPSC express different stem cell markers and can be induced to differentiate into cells from all three germ layers. FTSJ1 is ubiquitously expressed and mutations in this X-chromosomal gene are involved in an intellectual developmental disorder (OMIM: #309549). These cells can be used to model the disease at the cellular and organoid level in their original state or after differentiation into cell types of interest.

Journal Article↗
PubMed2006

Laterality in persons with intellectual disability II. Hand, foot, ear, and eye laterality in persons with Trisomy 21 and Williams-Beuren syndrome.

Laterality (hand, foot, ear, and eye) was assessed in participants with Trisomy 21 (62) and Williams-Beuren syndrome (WBS) (39). Handedness was also assessed in a card reaching task. The comparison group included 184 typically developing persons. Two independent age sub-groups were formed: 7 to 10 years old and 11 to 34 years old. We confirmed previous data: individuals with T21 were more frequently left- or mixed-handed than typically developing persons; individuals with WBS had intermediate scores. The two groups with genetic disorders had less right foot preference. Manual and foot inconsistencies characterized both groups with genetic disorders. Cross hand-foot preference was lower in the typically developing group. Differences in IQ levels did not correlate with differences in laterality scores. Overall laterality profiles were not the same in the two groups with genetic disorders: the greatest differences were observed between typically developing persons and persons with Trisomy 21.

Adolescent↗
PubMed2006

Laterality in persons with intellectual disability. I--do patients with trisomy 21 and Williams-Beuren syndrome differ from typically developing persons?

Persons with trisomy 21 (T21) and Williams-Beuren syndrome (WBS) have different brain abnormalities which may affect manual laterality. We assessed 45 persons with T21 and 34 with WBS (mean age 13) and 81 typically developing children (TD). Manual laterality was assessed with a fifteen-item task administered two times, and Bishop's card-reaching task. We found more left-handers in the T21 group compared to the other two groups. Inconsistent laterality was higher in the two groups with genetic diseases than in the TD group. For Bishop's test, both T21 and WBS participants were less right-oriented than the TD group. They displayed different response patterns in midline crossing when reaching for the cards, but did not display more midline crossing inhibition than the TD group. Is atypical handedness linked to specific genetic syndromes and, more specifically for persons with T21, to the trisomy of some of the genes?

Aging↗
PubMed2005

Overselective stimulus control in residential school students with intellectual disabilities.

Overselective stimulus control was assessed in 29 students at residential schools for individuals with developmental disabilities. Overselectivity testing included three different delayed identity matching-to-sample tasks. Sample stimuli for the Form/Color Test were nine possible combinations of three colors and three forms. On each trial, the S+ stimulus was identical to the sample, one S- was the same color as the sample but a different form, and the other S- was the same form but a different color. Sample stimuli for the Two-Sample Test were two alphanumeric characters. The S+ stimulus was identical to one of the sample stimuli, and two S- stimuli were characters different from both samples. Sample stimuli for the Faces Test were six digital images of adult faces. On each trial, the S+ stimulus was identical to the sample, one S- stimulus was a non-matching face to which one sample feature had been added (e.g., an identical hat or scarf), and the other S- stimulus was an unaltered non-matching face. All participants were also tested with the Peabody Picture Vocabulary Test III (PPVT) and the Autism Diagnostic Observation Schedule (ADOS). Results indicated overselective stimulus control on at least one test for 18 of the 29 participants. Overselectivity (a) was distributed across a range of PPVT mental age equivalent scores from <1.75 to 8.83; (b) was more likely in individuals with higher ADOS scores; (c) was most likely on the Two-Sample Test; and (d) was found in five individuals on more than one of the tests. Thus, overselective stimulus control may occur across a range of characteristics typical for students who attend residential special-education programs.

Adolescent↗
PubMed2000

Comorbid Down's syndrome, Tourette syndrome and intellectual disability: registry prevalence and developmental course.

The co-occurrence of Tourette syndrome (TS) and Down's syndrome (DS) has been previously reported in the literature. In the present study, a retrospective record review was conducted using the North Dakota TS registry in order to ascertain the number of cases of TS and DS, and to develop case descriptions. We identified five cases from North Dakota. Two of these patients were simply comorbid for TS and DS. One was additionally comorbid for bipolar disorder, another for childhood disintegrative disorder and a third had a D/G group translocation. The association between DS and TS occured in 2% of TS patients. Contrary to the situation in patients with pervasive developmental disorders, the presence of TS in DS may be a negative prognostic indicator.

Adolescent↗
PubMed2002

Intellectual disability and cerebral palsy in a UK community.

OBJECTIVE: The northern English city of Bradford has a population of 370,000. In recent years the Pakistani community has gradually expanded in number, and in 2001 contributed 41.4% of births in the city. There is a very high level of consanguineous marriage in this community, and the main aim of this study was to assess the influence of community endogamy and consanguinity on major disabling childhood diseases. SUBJECTS AND METHODS: More than 300 children are referred to the Child Development Centre each year. Data on neurodegenerative disorders, microcephaly and cerebral palsy were collated and analysed by community of origin and mode of inheritance. RESULTS AND CONCLUSIONS: There was a striking variation in the prevalence of many disabling conditions, but in all cases the Pakistani community was over-represented, suggesting a high prevalence of inherited disease. The large numbers of affected children present a challenge, and adequate resources are needed to improve the delivery of counselling, treatment and care to the community. As child health in Pakistan improves, our experience with the UK Pakistani community suggests that the genetic causes of disability and disease in childhood will assume greater importance.

Journal Article↗