Profound Intellectual Impairment Research Articles

Development and initial validation of a screening tool for visual ability/performance of people with polyhandicap

BackgroundVisual impairments are common in people with polyhandicap although they are poorly assessed. However, evaluation of the visual abilities of these people is critical to determining treatment for impairments. ObjectivesTo develop and validate an easy-to-use visual-behavioural scale for assessing the visual abilities of people with polyhandicap. MethodsThe development of the Visual Assessment for People with Polyhandicap (VA-PLH) involved 2 steps: i) construction of the scale and ii) field validation. Participant selection criteria were aged > 3 years, age at onset of cerebral lesion < 3 years, a combination of motor impairment and profound intellectual impairment associated with restricted mobility (Gross Motor Function Classification System levels [GMFCS] III, IV or V), and everyday life dependence (Functional Independency Measure [FIM] <55). Vision assessment by both an orthoptist and an ophthalmologist was the reference against which were analysed the items of the scale completed by local health care workers. Acceptability, validity, and reliability were analysed. ResultsAmongst the 232 participants included, 217 had a complete assessment, and 33% were < 18 years of age. Ocular abnormalities were reported in 83% of participants. Visual ability was altered or insufficient in 60% of participants. The final version of the VA-PLH included 3 items related to visual reaction (Area Under Curve Receiver Operating Characteristic = 0.83). Participants were considered at-risk if they had at ≥ 1 of 3 signs present (sensitivity 83% and specificity 73%). The scale's reliability was satisfactory ConclusionThe VA-PLH scale provides an easy-to-use, reliable and valid measure of visual status for people with polyhandicap and may be used both in clinical practice and clinical research. In addition, this study provides an overview of the diversity of visual impairments in a large population of people with polyhandicap, showing that most experience visual challenges.

Survey on children with cerebral palsy in Tochigi Prefecture, Japan.

The incidence of cerebral palsy (CP) is influenced by perinatal medicine and regional medical systems. We investigated the recent incidence of CP and the current problems of children with CP in living at home under an advanced perinatal medical system in Tochigi Prefecture, Japan. A clinical datasheet survey was performed among 13 hospitals and six rehabilitation facilities treating children with CP born in Tochigi Prefecture to estimate the incidence of CP among children born between 2009 and 2013. The severity of motor and intellectual impairment, presumed causal factors, complications, and provided medical interventions were investigated and compared between preterm and term-born children with CP. The incidence of CP was 1.6 per 1000 live births. Shorter gestation period and lower birthweight were associated with a higher incidence of CP. Fifty-one percent of children with CP were non-ambulatory and 55% had severe to profound intellectual impairment. Episodes of neonatal asphyxia and periventricular leukomalacia were the most frequent causal factors; both were significantly more frequent in preterm than in term-born children. Approximately 30% of children with CP had respiratory disorders, dysphagia, or epilepsy; 62% received medical interventions, including medication, mechanical ventilation, oxygen therapy, tube feeding, and intraoral/intranasal suction. We found the incidence of CP to be lower in comparison to previous Japanese studies. However, the motor and intellectual impairments were severe, and many children with CP and their families were burdened by daily medical care. Public support systems should be developed, as well as the perinatal medical system.

Development and initial validation of the polyhandicap severity scale.

Providing a new tool, based on the point of view of experts in polyhandicap, which assesses the global severity of the health status of polyhandicapped persons is necessary. We present herein the initial validation of the polyhandicap severity scale (PSS). The initial development of the tool was undertaken in two steps: item selection and validation process. The final set included 10 items related to abilities and 17 items related to comorbidities and impairments. The patient selection criteria were as follows: age>3 years, age at onset of cerebral lesion under 3 years old, with a combination of motor deficiency and profound intellectual impairment, associated with restricted mobility and everyday life dependence. External validity, reproducibility (20 patients), responsiveness (38 patients), and acceptability were explored. During the 18-month study period, a total of 875 patients were included. Two scores were calculated: an abilities score and a comorbidities/impairments score (higher score, higher severity). The 2 scores were higher for: older patients, patients with a progressive etiology, patients with more devices and more medications, patients with higher dependency and lower mobility. Indicators of reproducibility and responsiveness were satisfactory. The mean time duration of fulfilling was 22minutes (standard deviation 5). Quantifying the health severity of polyhandicapped persons is necessary for both healthcare workers and health decision makers. The polyhandicap severity scale provides the first reliable and valid measure of the health severity status for children and adults.

Health issues in polyhandicapped patients according to age: Results of a large French cross-sectional study

IntroductionA better understanding of the natural course of the health status of patients with polyhandicap may optimize preventive and curative care management. From a large sample of patients aged from 3 to 25 years, we reported the description of their health status. MethodsThis was an 18-month cross-sectional study including patients aged from 3 to 25 years with a combination of severe motor deficiency and profound intellectual impairment. The patients were recruited from 4 specialized rehabilitation centers, 9 residential facilities, and a pediatric/neurological department. The following data were collected: polyhandicap etiology, health status (impairments, comorbidities, and neurodevelopmental status), medical devices, and rehabilitation procedures. ResultsA total of 545 patients were included (n=80 [3–5 years], n=166 [6–11 y], n=155 [12–17 y], and n=144 [18–25 y]). The etiology of polyhandicap was unknown for 11.5% of the cases. Behavioral disorders and (orthopedic and digestive) comorbidities were more frequent in the oldest age classes. The neurodevelopmental status of the patients was close to those of a 5- to 7-month-old child without progression across age. Gastrostomy was the most frequent device needed by the patients. Discussion/ConclusionEarly detection and management of impairments and comorbidities may improve the disease course of the patients.

Impact of severe polyhandicap cared for at home on French informal caregivers’ burden: a cross-sectional study

ObjectivesPolyhandicap (PLH), defined by a combination of profound intellectual impairment and serious motor deficits, is a severe condition with complex disabilities. In France, care of the large majority of PLH...

Polyhandicap and aging

BackgroundKnowledge of the health status and care management of elderly individuals with polyhandicap* is lacking; however, a better understanding of the natural course of ageing in persons with severe and complex disability would help optimize preventive and curative care management strategies. ObjectivesTo describe persons with severe and complex disability aged 18–68 years by providing i) a description of their health status and ii) a description of their medications, medical devices and rehabilitation procedures. MethodsThis was an 18-month cross-sectional study including people aged 18–68 years with a combination of severe motor deficiency and profound intellectual impairment. They were recruited from 4 specialized rehabilitation centres, 9 residential facilities, and a neurological department. The following data were collected: aetiology of severe and complex disability, health status, medical devices, and rehabilitation procedures. ResultsA total of 474 persons with severe and complex disability were included (N = 219 [18–34 years], N = 151 [35–49 years], N = 104 [50–68] years). The aetiology of severe and complex disability was unknown for 13%–17% of persons with severe and complex disability across the 3 age classes. Behavioural disorders and pain were more frequent in the oldest age classes. Elderly persons with severe and complex disability had more severe but less unstable severe and complex disability. Their neurodevelopmental was close to that of a 4-month-old child without progression across age. Gastrostomy was the most frequent device needed by the persons with severe and complex disability. ConclusionsThe longevity of persons with severe and complex disability is improving; some of these persons, among whom are the least unstable and with less comorbidity, can survive for more than 50 years due to the improvement of preventive actions and supportive care.

Impact of severe polyhandicap on parents' quality of life: A large French cross-sectional study.

BackgroundPolyhandicap (PLH) is a condition of severe and complex disabilities and is defined by a combination of profound intellectual impairment and serious motor deficits. Parents of PLH individuals are chronically confronted with stressful situations. The aims of this study are i) to assess and compare the quality of life (QoL) of a large panel of parents of PLH individuals with age- and gender-matched controls and ii) to identify potential determinants of parents’ QoL.MethodWe conducted a cross-sectional study. Parents were recruited from 4 specialized rehabilitation centres, 9 residential facilities, and a specialized paediatric/neurological department. The selection criteria were age above 18 years and being the mother/father of a PLH individual. The data collected from the parents included sociodemographic, health status, and psycho-behavioural data (including QoL); additionally, the health status of the PLH individuals was collected.ResultsThe QoL scores of all dimensions were significantly lower for parents than for controls. The main factors modulating parents’ QoL were financial issues, health status, and coping strategies. The PLH individuals’ health status was not associated with parents’ QoL.ConclusionsSome QoL determinants might be amenable. These findings should help health care workers and health decision makers to implement specific and appropriate interventions.

Adequacy of care management of patients with polyhandicap in the French health system: A study of 782 patients.

BackgroundThe aims of this study were 1) to describe the health profiles and care management of polyhandicapped patients according to 2 modalities, specialized rehabilitation centers (SRC) and residential facilities (RF), and 2) to estimate the adequacy of care management of these patients.MethodsThis was an 18-month cross-sectional study including patients with a combination of severe motor deficiency and profound intellectual impairment. The patients were from 4 SRC and 9 RF. The following data were collected: sociodemographics, health status, care management, and adequacy of care management.ResultsA total of 782 patients were included: 410 (52%) were cared for in SRC and 372 (48%) in RF. Global objective adequacy (health severity and age category) was higher for patients cared for in SRC compared with patients cared for in RF (57 vs. 44%, p< = 10−3). Global subjective adequacy (self-perception of the referring physician and request of change in structure) was higher for patients cared for in SRC in comparison with patients cared for in RF (98 vs. 92%, p< = 10−3).ConclusionsThis study provides key elements of adequacy of care management modalities for polyhandicapped patients in France.Trial registrationClinicalTrials.gov NCT02400528

Adequacy of care management of patients with polyhandicap: The features of the French healthcare system

The aims of this study were: –to describe the health profiles and care management of polyhandicapped patients according to 3 modalities specialized rehabilitation centers (SRC), residential facilities (RF), and home care (HC); –to estimate the adequacy of care management of these patients. This was an 18-month cross-sectional study including patients with a combination of severe motor deficiency and profound intellectual impairment. The patients were from 4 SRC, 9 RF, and a pediatric/neurologic department (HC). The following data were collected: sociodemographics, health status, care management, and adequacy of care management. A total of 875 patients were included: 410 (47%) were cared for in SRC, 372 (43%) in RF, and 84 (10%) in HC. Global objective adequacy (health severity and age category) was higher for patients cared for in SRC compared with patients cared for in RF (57 vs. 44%, P ≤10 −3 ). Global subjective adequacy (self-perception of the referring physician and request of change in structure) was higher for patients cared for in SRC (98%) in comparison with patients cared for in RF and HC (92 and 87%). This study provides key elements of adequacy of care management modalities for polyhandicapped patients in France.

Health issues in polyhandicapped patients according to age: Results of a large French survey

A better understanding of the natural course of the health status of patients with polyhandicap may optimize preventive and curative care management. From a large sample of patients aged from 3 to 25 years, we reported the description of their health status. This was an 18-month cross-sectional study including patients aged from 3 to 25 years with a combination of severe motor deficiency and profound intellectual impairment. The patients were recruited from 4 specialized rehabilitation centers, 9 residential facilities, and a pediatric/neurological department. The following data were collected: polyhandicap etiology, health status (handicaps, comorbidities, and neurodevelopmental status), medical devices, and rehabilitation procedures. A total of 545 patients were included ( n = 80 [3–5 years], n = 166 [6–11 y], n = 155 [12–17 y], and n = 144 [18–25 y]). The etiology of polyhandicap was unknown for 11% of the cases. Behavioral disorders and (orthopedic and digestive) comorbidities were more frequent in the oldest age classes. The neurodevelopmental status of the patients was close to those of a 5- to 7-month-old child without progression across age. Gastrostomy was the most frequent device needed by the patients. Early detection and management of handicaps and comorbidities may improve the disease course of the patients.

Secular changes in severity of intellectual disability in tuberous sclerosis complex: A reflection of improved identification and treatment of epileptic spasms?

SummaryTuberous sclerosis complex (TSC) is a multisystem genetic disorder caused by mutations in TSC1 or TSC2. Epilepsy occurs in 80%‐90% of affected individuals during their lifetime, and up to one‐third of children with TSC will develop epileptic (infantile) spasms, for which vigabatrin has been shown to be particularly effective. Epilepsy severity and epileptic spasms are consistent markers of risk for the development of intellectual impairment in TSC. Although previous studies demonstrate a bimodal distribution of intellectual ability in TSC, recent findings suggest a unimodal distribution, which may reflect a change in IQ distribution over time. We compared 3 large historical UK cohorts of TSC (n = 331) that show varied distributions of intellectual ability, first ruling out differences in study methodology. Later‐born individuals had a higher frequency of reported spasms and higher likelihood of vigabatrin administration, but were less likely to have profound intellectual impairment, compared to the earlier‐born individuals. Our findings suggest that epileptic spasms went undetected in the older patients and therefore were not treated, leading to a higher occurrence of profound impairment, whereas the later born cohort had better access to treatment. These findings support the importance of early identification and treatment of seizures in TSC.

Rare partial octosomy and hexasomy of 15q11-q13 associated with intellectual impairment and development delay: report of two cases and review of literature

BackgroundSmall supernumerary marker chromosomes (sSMCs) are common structurally abnormal chromosomes that occur in 0.288% of cases of mental retardation. Isodicentric 15 (idic(15)) is common in sSMCs and usually leads to a rare chromosome disorder with distinctive clinical phenotypes, including early central hypotonia, developmental delay, epilepsy, and autistic behavior. It was previously shown that the partial tetrasomy 15q and partial hexasomy 15q syndromes are usually caused by one and two extra idic(15), respectively. Karyotypes containing a mosaic partial octosomy 15q resulting from three extra idic(15) have rarely been reported.Case presentationTwo patients with profound intellectual impairment, development delay and hyperpigmentation were recruited for this study. The phenotype was relatively more severe in patient 1 than in patient 2. Conventional cytogenetic analysis of peripheral blood obtained from patients 1 and 2 revealed rare mosaic karyotypes containing sSMCs, i.e., mos 49,XX,+mar × 3[83]/48,XX,+mar × 2[7]/46,XX[10] and mos 48,XX,+mar × 2[72]/47,XX,+mar[28], respectively. The results of analyses of copy number variation (CNV) and fluorescence in situ hybridization (FISH) analyses, showed that the sSMCs were found to be idic(15) involving the Prader-Willi/Angelman Syndrome Critical Region (PWACR) genes and the P gene, with duplication sizes of 6.3 Mb and 9.7 Mb, respectively. DNA fingerprinting analysis of patient 1 showed a maternal origin for the idic(15). Both patients had mosaic idic(15) karyotypes: patient 1 had cells with a 15q partial octosomy (83%), and patient 2 had cells with a 15q partial hexasomy (72%).ConclusionsWe detected two rare mosaic idic(15) karyotypes that were associated with congenital abnormalities, including a rare mosaic octosomy of 15q11-q13. Our cases further validate the notion that the phenotypic severity is correlated with the level of mosaicism and the dosage effect of related genes in the proximal 15q.

Impact of caring for patients with severe and complex disabilities on health care workers' quality of life: determinants and specificities.

Individuals with severe and complex disabilities, defined by a combination of profound intellectual impairment and serious motor deficit resulting in extreme dependence, often remain in hospital or at residential facilities. The aim of this study was to identify the determinants of quality of life (QoL) of 238 health care workers (HCWs) caring for individuals with severe and complex disabilities. We conducted a cross-sectional study. The recruitment of the HCWs was performed in five French centres specializing in patients with severe and complex disabilities. The selection criteria were age above 18 years, being an institutional referent HCW (a resource person coordinating various issues for or about the patient), and agreeing to participate. Sociodemographic, health, professional variables, and psycho-behavioural (QoL, burn-out, and coping strategies) data were collected. Of the 362 eligible HCWs, 65.7% returned the questionnaires. The scores of the physical and social dimensions of QoL were significantly lower, and the score of the psychological dimension significantly higher, than those of a comparison group. The main factors modulating QoL were age, financial difficulties, nature of coping strategy, and burn-out. This research provides preliminary evidence that caring for patients with severe and complex disabilities affects the QoL of HCWs. These results support the need for optimization of the work environments for HCWs.

Cortical Layer Inversion and Deregulation of Reelin Signaling in the Absence of SOCS6 and SOCS7.

Mutations of the reelin gene cause severe defects in cerebral cortex development and profound intellectual impairment. While many aspects of the reelin signaling pathway have been identified, the molecular and ultimate cellular consequences of reelin signaling remain unknown. Specifically, it is unclear if termination of reelin signaling is as important for normal cortical neuron migration as activation of reelin signaling. Using mice that are single or double deficient, we discovered that combined loss of the suppressors of cytokine signaling, SOCS6 and SOCS7, recapitulated the cortical layer inversion seen in mice lacking reelin and led to a dramatic increase in the reelin signaling molecule disabled (DAB1) in the cortex. The SRC homology domains of SOCS6 and SOCS7 bound DAB1 ex vivo. Mutation of DAB1 greatly diminished binding and protected from degradation by SOCS6. Phosphorylated DAB1 was elevated in cortical neurons in the absence of SOCS6 and SOCS7. Thus, constitutive activation of reelin signaling was observed to be equally detrimental as lack of activation. We hypothesize that, by terminating reelin signaling, SOCS6 and SOCS7 may allow new cycles of reelin signaling to occur and that these may be essential for cortical neuron migration.

Evaluating a Sham-Controlled Sensory-Testing Protocol for Nonverbal Adults With Neurodevelopmental Disorders: Self-Injury and Gender Effects

Ambiguous or blunted responses to sensory and painful stimuli among individuals with severe intellectual disabilities and comorbid communicative impairments put them at risk for having their experience of pain discounted and their expression of pain misinterpreted. Valid measurement procedures of behavioral expression are critical for this vulnerable group of individuals. We investigated a sham-controlled sensory-testing protocol as an approach to guard against observer bias during nonverbal behavioral recording for individuals with intellectual disabilities. Participants were 44 (52% male) adults (mean age = 46, sd = 10) with moderate (14%) and severe to profound (86%) intellectual impairment. The facial behavior of the participants before, during, and after 5 sensory-stimulation modalities (pin prick, light touch, deep pressure, cool, warm) was coded by 3 raters using the Facial Action Coding System (FACS). For each participant, the 5 active sensory trials were randomized with sham trials during which no stimulation was applied. Observers were blinded to active vs sham stimulation status. FACS scores increased significantly during active sensory trials (P < .05) compared with sham trials. There were significant effects for gender, with females more expressive than males (P < .05). There were also significant effects for the presence of self-injurious behavior (SIB), with individuals with SIB more expressive than individuals without SIB (P < .05). The results suggest that the procedure was valid (ie, distinguished between active vs sham sensory stimulation) and provides additional evidence that individuals with significant intellectual impairments are sensitive to tactile stimulation consistent with quantitative sensory-testing protocols. This article presents a novel application of a modified approach to quantitative sensory testing for nonverbal adults with intellectual and developmental disabilities. This approach could be important in helping determine sensory issues related to tactile and nociceptive processes among a highly vulnerable group of individuals.

A novel CDKL5 mutation in a 47,XXY boy with the early‐onset seizure variant of Rett syndrome

Mutations of the cyclin-dependent kinase-like 5 gene (CDKL5), reported almost exclusively in female subjects, have been recently found to be the cause of a phenotype overlapping Rett syndrome with early-onset epileptic encephalopathy. We describe the first CDKL5 mutation detected in a male individual with 47,XXY karyotype. This previously unreported, de novo, mutation truncates the large CDKL5 COOH-terminal region, thought to be crucial for the proper sub-cellular localization of the CDKL5 protein. The resulting phenotype is characterized by a severe early-onset epileptic encephalopathy, global developmental delay, and profound intellectual and motor impairment with features reminiscent of Rett syndrome. In light of the data presented we discuss the possible phenotypic modulatory effects of the supernumerary wild type X allele and pattern of X chromosome inactivation and stress the importance of considering the causal involvement of CDKL5 in developmentally delayed males with early-onset seizures.

MAP'ing CNS Development and Cognition: An ERKsome Process

The ERK MAP kinase signaling cascade plays critical roles in brain development, learning, memory, and cognition. It has recently been appreciated that mutation or deletion of elements within this signaling pathway leads to developmental syndromes in humans that are associated with impaired cognitive function and autism. Here, we review recent studies that provide insight into the biological roles of the ERKs in the brain that may underlie the cognitive deficits seen in these syndromes.

An audit of adults with profound and multiple learning disabilities within a West Midlands Community Health Trust – implications for service development

Accessible summary • We wanted to find out more information about adults with profound and multiple learning disabilities who lived in our area. • We carried out a survey (audit) using information from the local Community Teams. • We found 61 people. Many of these people had two or more disabilities e.g. physical disability, hearing problems, epilepsy, problems with eating and drinking. • We have set up a multidisciplinary team to work with this group of people. • We have made a register to keep information up to date. • We want to highlight the very special needs of this group of people and make sure they are given a good service. Summary An audit was carried out to gain an overview of the profound and multiple learning disabilities (PMLD) population in a local health trust to inform current and future service provision. An overview of the issues faced in developing clear defining criteria is presented. Published definitions of PMLD were used to identify clients from data held on the Special Needs Register (SNR – a data base of people with learning disabilities known to health and social services departments). Information obtained was cross checked with community teams and other professional service records to identify any further individuals who may meet criteria for PMLD. Existing information from individual case notes was then audited to confirm the clients identified meet the criteria for PMLD. The audit identified 61 adults with PMLD; all have complex needs and multiple health care requirements. Eighty-three per cent had two or more disabilities in addition to profound intellectual impairment. Twenty-nine per cent were reported as having problems with dysphagia. People with PMLD should be given priority for health action plans, particularly vision and hearing screening. The audit also needs to be extended to include younger people in transition to adult services. A register of clients with PMLD needs to be established and maintained as part of the SNR register.

A visual skills inventory for children with neurological impairments

Children with neurological impairments often have visual deficits that are difficult to quantify. We have compared visual skills evaluated by carers with results of a comprehensive visual assessment. Participants were 76 children with mild to profound intellectual and/or motor impairment (33 males, 43 females; age range 7mo-16y; mean age 5y 1mo [SD 4y 2mo]) who completed a visual skills inventory before attending a special vision clinic. The inventory included 16 questions about visual skills and responses to familiar situations. Responses were augmented by taking a structured clinical history, compared with visual evoked potential (VEP) and/or acuity card measures of visual acuity, and examined using exploratory factor analysis. Acuity ranged from normal to no light perception, and was positively associated with responses to individual questions. After excluding four uninformative questions, an association between the remaining questions and two significant independent factors was found. Factor 1 was associated with questions about visual recognition (e.g. 'Does your child see a small silent toy?') and these items were correlated with both the VEP and acuity card thresholds. Factor 2 was associated primarily with questions about visually mediated social interactions (e.g. 'Does he/she return your silent smile?'). Evaluation of visual skills in children with neurological impairment can provide valid information about the quality of children's vision. Questions with the highest validity for predicting vision are identified.

Supporting lifelong learning for people with profound and multiple learning difficulties

This article addresses the issue of supporting lifelong learning for individuals with profound and multiple learning difficulties. Lifelong learning is usually a more mainstream concept and is rarely applied to this marginalized group for whom learning per se is such a challenge. The paper debates whether the concept is a useful one, and what lifelong learning might actually look like for someone with such a profound intellectual impairment.