Self-injury in people with intellectual disability and epilepsy: a matched controlled study

We aimed to identify the presence of self-injurious behavior in a sample of 158 people with intellectual disability and epilepsy as compared with a control sample consisting of 195 people with intellectual disability without epilepsy. The Italian Scale for the Assessment of self-injurious behaviors was used to describe self-injurious behavior in both groups. The groups were matched for ID degree: mild/moderate (20 and 20 respectively), severe/profound (45 in both samples) and unknown (4 in both samples). Seventy-four percent of the first sample were diagnosed with symptomatic partial epilepsy. The prevalence of self-injurious behaviors was 44% in the group with intellectual disability and epilepsy and 46.5% in the group with intellectual disability without epilepsy (difference not significant). The areas most affected by self-injurious behaviors in both samples were the hands, the mouth and the head. The most frequent types of self-injurious behaviors were self-biting, self-hitting with hands and with objects. Self-injurious behavior is frequently observed in individuals with epilepsy and intellectual disability. Our study does not suggest that the presence of epilepsy is a risk factor for self-injurious behavior in this patient group.     

Differentiating anxiety and depression symptoms in patients with partial epilepsy

Anxiety and depression are separate psychiatric conditions that are often interrelated. This study examines whether they exist independently in this population of patients with partial epilepsy and if they affect all quality-of-life domains. Adult epilepsy patients taking two or more antiepileptic drugs completed a health status survey including demographic items, the Hospital Anxiety and Depression Scale, and the Quality of Life in Epilepsy-10 (QOLIE-10). The questionnaire was completed by 201 epilepsy patients. Symptom prevalences of anxiety (52% none, 25% mild, 16% moderate, 7% severe) and depression (62% none, 20% mild, 14% moderate, 4% severe) were high. All health-related quality-of-life (HRQOL) domains worsened significantly with increasing levels of anxiety and depression: Total QOLIE-10 scores decreased from 72+/-18 in patients with no anxiety to 54+/-13 in those with mild, 48+/-18 in those with moderate, and 40+/-23 in those with severe anxiety (P<0.0001). Total QOLIE-10 scores decreased from 70+/-16 in patients with no depression to 50+/-16 in those with mild, 45+/-16 in those with moderate, and 24+/-21 in those with severe depression (P<0.0001). No significant difference in anxiety scores was observed controlling for seizure frequency or epilepsy duration. Regression analyses showed that anxiety and depression account for different proportions of variance as predictors of HRQOL (R2=0.337 (anxiety) and 0.511 (depression)). The data suggest that patients may benefit from increased attention to the role of anxiety separately from depression.     

CBCL in the assessment of psychopathology in Finnish children with intellectual disability

Structured checklists have been used to supplement psychiatric assessment of children with normal intelligence, but for children with intellectual disability, only a few checklists exist. We evaluated the Child Behavior Checklist (CBCL) in the assessment of psychopathology in Finnish children with intellectual disability. The CBCL was completed by parents or other carers of 90 children aged 6-13 years. Of the 118 CBCL problem items, the lowest scores were for 'Suicidal talks' and 'Alcohol, drugs', and the highest score for 'Acts too young'. Total Problem, Internalizing, and Externalizing scores were highest among children with moderate intellectual disability and lowest among those with profound intellectual disability. Externalizing scores were significantly higher among children with mild or moderate intellectual disability than among those with severe or profound intellectual disability. Compared with the original normative samples, Total Problem scores were higher in the present study. With a T-score cut-off point of 60, the rated frequency of psychiatric disorders was 43%. We conclude that, despite certain limitations, the CBCL can be used in the assessment of psychopathology among children with mild intellectual disability but is less reliable for those with moderate, severe, or profound intellectual disability.     

Sympathetic skin response in patients with severe motor and intellectual disabilities

To elucidate autonomic function in individuals with severe motor and intellectual disabilities, we evaluated sympathetic skin response in 14 patients with severe motor and intellectual disabilities. The results of sympathetic skin response were compared with those of patients with mild or moderate motor and intellectual disabilities who could walk and had an intelligence quotient > or = 35 (7 cases) and neuromuscular diseases (3 cases). No sympathetic skin response was recorded in patients with severe motor and intellectual disabilities, whereas all patients with mild or moderate motor and intellectual disabilities defined above and neuromuscular diseases showed sympathetic skin response. The results suggested that all patients with severe motor and intellectual disabilities had autonomic dysfunction, and sympathetic skin response can be a useful test that can evaluate autonomic function in patients with severe motor and intellectual disabilities.     

Epilepsy in patients with severe motor and intellectual disabilities: a long-term follow-up

Long-term prognosis of epilepsy was investigated on 117 institutionalized patients with severe motor and intellectual disabilities, who were above 15 years of age in 1977, for a 20-year-period from 1977 to 1997. The incidence of epilepsy was 64.1% (75 patients), which was active in 28 patients (37.3%). The patients with the most severe psychomotor disabilities (bedridden and DQ < 20) showed the highest incidence of epilepsy (85.0%). Patients who died during the follow-up period showed higher incidence of active epilepsy (p < 0.01). During the follow-up of 94 surviving patients, persistence, relapse, and onset of seizures were frequent in patients with most severe intellectual disability, whereas those with less severe intellectual disability (20 < DQ < 35) were all seizure-free. Twenty-one patients had active epilepsy; symptomatic partial epilepsy in 17 (81.0%) and generalized epilepsy in 4 (19.0%). Notably, 5 of the 6 patients with persistent frequent seizures had age-dependent epileptic encephalopathy; persistent Lennox-Gastaut syndrome (LGS) (2 patients), severe epilepsy with multiple independent spike foci evolved from West syndrome (WS) and LGS (2 patients), and partial epilepsy with the history of LGS (1 patient).     

Population prevalence of psychopathology in children and adolescents with intellectual disability: II epidemiological findings

This paper reports findings from an epidemiologically derived population in a multicentre study in NSW, Australia. The design of this study is described in the accompanying paper. Those with mild intellectual disability (ID) were likely to have been underascertained, but identification and participation rates for those with more severe ID were high. The study found that in the regions surveyed 40.7% of those with ID and aged between 4 and 18 could be classified as having severe emotional and behaviour disorder or as being psychiatrically disordered. The profoundly intellectually handicapped had lower levels of disturbance overall compared with those with mild, moderate and severe ID. The level of ID affected scores on a number of behavioural dimensions, with disruptive and antisocial behaviours more prominent in the mild ID group, and ‘self–absorbed’ and ‘autistic’ behaviours more prominent in those with severe ID. Age and sex did not affect prevalence, a finding that is in contrast to that found in general child psychopathology. The study found that fewer than 10% of children with intellectual disability and major psychiatric disorder had received specialist assistance.     

Clinical spectrum of KIAA2022/NEXMIF pathogenic variants in males and females: Report of three patients from Indian kindred with a review of published patients

BackgroundIn the last two decades, with the advent of whole-exome and whole-genome sequencing, supplemented with linkage analysis, more than 150 genes responsible for X-linked intellectual disability have been identified. Some genes like NEXMIF remain an enigmatic entity, as often the carrier females show wide phenotypic diversity ranging from completely asymptomatic to severe intellectual disability and drug-resistant epilepsy.MethodsWe report three patients with pathogenic NEXMIF variants from an Indian family. All of them had language predominant developmental delay and later progressed to moderate intellectual disability with autistic features. We also reviewed the previously published reports of patients with pathogenic NEXMIF variants.ResultsTogether with the presented cases, 45 cases (24 symptomatic females) were identified from 15 relevant research items for analysis. Males have demonstrated a more severe intellectual disability and increasingly delayed walking age, autistic features, central hypotonia, and gastroesophageal reflux. In contrast, females have shown a predominant presentation with drug-resistant epilepsy and mild to moderate intellectual impairment. Notably, the affected females demonstrate a higher incidence of myoclonic, absence, and atonic seizures. The majority of the variants reported are nonsense or frameshift mutations, causing loss of function of the NEXMIF gene, while a considerable proportion possesses chromosomal translocations, microdeletions, and duplications.ConclusionsNEXMIF gene mutations should be suspected in all cases of X-linked ID and autism cases in males or even in refractory epilepsy cases in females.     

Psychiatric disorders and behavior problems in people with intellectual disability

The relationship between behavior problems and psychiatric disorders in individuals with intellectual disability is still unresolved. The present study compares the prevalence and pattern of psychiatric disorders in individuals with intellectual disability who were assessed on the ABC to have moderate and severe behavior problems and a matched group of individuals without such problems. Both groups were living in community settings and had their intellectual disability varied from mild to profound degrees. The participants were screened for psychiatric disorders using four different instruments; the Reiss Screen, the Mini PAS-ADD, the DASH-II and the ADD. The group with moderate and severe behavior problems showed significantly more symptoms of psychiatric disorders than the group without such problems when items related to behavior disorders were omitted, and the majority of the participants with behavior problems had symptoms of the main psychiatric disorders. The participants with mild and moderate intellectual disability showed more symptoms of psychosis and depression than the participants with severe and profound intellectual disability. There were no direct associations between individual behavior problems and psychiatric disorders, but the group with mild/moderate intellectual disability showed a somewhat different pattern of associations than the group with severe/profound intellectual disability. Depression was associated with screaming and aggression in the participants with severe and profound intellectual disability, and with self-injury in the participants with mild and moderate intellectual disability. The finding that the majority of the participants with behavior problems showed symptoms of psychiatric disorders suggests that many behavior problems may be (unconventional) symptoms of psychiatric disorders or reflect a difficult life situation caused by a psychiatric disorders, or that a difficult life situation may contribute to both psychiatric disorders and behavior problems in individuals with intellectual disability.     

脑损伤所致智能损害的相关分析

目的:探讨脑损伤所致智能损害的影响因素.方法:对我院2009年1月至12月因交通事故造成脑损伤所致智能损害案例的资料进行回顾性分析.结果:162例脑损伤所致智能损害以轻、中度智能损害为多见(136例);智能损害与昏迷时间、脑损伤程度、脑电图、年龄和手术时间明显相关.结论:交通事故造成脑损伤所致智能损害以轻、中度智能损害...     

Emotional and behavioural needs of children and adolescents with intellectual disabilities in an urban conurbation

Background Over the past decade, increased attention has been paid to identifying and responding to the emotional and behavioural needs of children and adolescents with intellectual disability (ID). The aims of the present study were to add to this body of knowledge by identifying factors associated with emotional and behavioural needs among a sample of children with ID drawn from a large urban conurbation. Method Information was collected by postal questionnaire (or interview for family carers who did not have English as their first language) from teachers and from family carers of 615 children administratively identified as having ID (47% of all children with ID). Results Results indicated that: (1) the administrative prevalence of moderate but not severe ID was associated with social deprivation whereas the prevalence of severe but not moderate ID appeared to be associated with ethnicity; (2) 54% of children scored above the threshold on the Developmental Behaviour Checklist (DBC)–primary family carer, and 37% of children scored above the threshold on the DBC-teacher; (3) social deprivation, male gender, less severe ID and having fewer physical or sensory impairments were associated with antisocial and disruptive behaviour; and (4) more severe ID and additional impairments were associated with anxiety, communication disturbance, social relating and self-absorbed behaviours. Conclusions These results identify a range of risk factors associated with behavioural and emotional problems experienced by children with ID.     

Severe myoclonic epilepsy of infancy (Dravet syndrome): recognition and diagnosis in adults

Establishing an etiologic diagnosis in adults with refractory epilepsy and intellectual disability is challenging. We analyzed the phenotype of 14 adults with severe myoclonic epilepsy of infancy. This phenotype comprised heterogeneous seizure types with nocturnal generalized tonic-clonic seizures predominating, mild to severe intellectual disability, and variable motor abnormalities. The diagnosis was suggested by a characteristic evolution of clinical findings in the first years of life. Ten had mutations in SCN1A and one in GABRG2.     

A follow-up study of mortality, health conditions and associated disabilities of people with intellectual disabilities in a Swedish county

Background In the planning of services and health care for individuals with intellectual disability (ID), information is needed on the special requirements for habilitation and medical service and associated disabilities. Material and methods An unselected consecutive series of 82 adult persons with ID was studied. The medical examination consisted of the individual's health condition, associated impairments and disabilities. Medical and habilitation services and support were studied. Results The results indicated that 71% of the persons in the series had severe and 29% mild ID. Forty-seven per cent of the persons with severe ID and 35% of those with mild ID had one or more additional central nervous system (CNS) disabilities. Of the persons with ID, 99% had access to a family doctor and 84% attended regular health visits. Notably, half of persons were referred to a specialist examination as a consequence of their present medical examination. Half of the persons with mental health problems were previously undiagnosed and only a few of these had access to a psychiatrist. Conclusion Our study clearly demonstrates the magnitude and importance of neurological and psychiatric impairments in ID. The findings suggest a strong need for multidisciplinary health service.     

Cognitive development in females with PCDH19 gene-related epilepsy

Mutations in the PCDH19 gene are now recognized to cause epilepsy in females and are claiming increasing interest in the scientific world. Clinical features and seizure semiology have been described as heterogeneous. Intellectual disability might be present, ranging from mild to severe; behavioral and psychiatric problems are a common feature of the disorder, including aggressiveness, depressed mood, and psychotic traits.The purpose of our study was to describe the cognitive development in 11 girls with a de novo mutation in PCDH19 and early-onset epilepsy.Six patients had average mental development or mild intellectual disability regardless of persistence of seizures in clusters. Five patients presented moderate or severe intellectual disability and autistic features. In younger patients, we found that despite an average developmental quotient, they all presented a delay of expressive language acquisition and lower scores at follow-up testing completed at older ages, underlining that subtle dysfunctions might be present.Larger cohort and long-term follow-up might be useful in defining cognitive features and in improving the care of patients with PCDH19.     

DEVELOPMENTAL SEQUELAE OF LONG-TERM INFANT TRACHEOSTOMY

The records of 130 children who had had a tracheostomy for more than one month between 1972 and 1982 were reviewed for birth, medical and demographic characteristics, and 32 who were not severely physically or mentally handicapped were followed up at a mean age of 5.5 years. Rates of mortality and morbidity were high, and half of the survivors had moderate to severe intellectual and physical impairments. Even those with the most optimal outcome had significant developmental problems, including slower growth-rate and higher than normal incidences of behavior problems and speech difficulties. Most survivors needed special educational intervention or rehabilitative therapies.     

J. Russell Reynolds and the study of interictal symptoms in epilepsy

Sir John Russell Reynolds (1828-1896) was a prominent English neurologist who was among the first to carefully study interictal behavior in patients with epilepsy. He challenged the prevailing dogma that severe mental illness was nearly always concomitant of epilepsy. Studying the cognitive and emotional functions of 62 patients with essential (idiopathic) epilepsy, he found that 39% of the patients were normal, 32% had only mild impairment of recent memory, and 29% had moderate to severe psychopathologic findings. His study of interictal behavior in epilepsy is one of the earliest attempts to avoid selection bias and represents an important contribution to the study of this problem.     

Prevalence, aetiology and comorbidity of severe and profound intellectual disability in Finland

Background The aim of the present study was to describe the aetiology, associated impairments and prevalence of severe and profound intellectual disability (SPID) in Finland. Methods The number of people with SPID in the catchment area of the Pääjärvi Centre for the Mentally Retarded, Lammi, Finland, (total population = 341 227) was calculated from the client register of this centre. Aetiological factors and background diagnoses for all subjects with SPID were analysed retrospectively. Results The number of people with SPID was 461, giving a prevalence of 0.13%. The aetiology of their SPID was genetic or congenital in 235 (50.9%) individuals, acquired in 89 (19.3%), genetic and/or acquired in 84 (18.3%), and unknown in 53 (11.5%) subjects. Out of the 53 individuals with an SPID of unknown origin, 48 (90.6%) had an associated impairment; the remaining five were the only members of the study group showing normal growth, and having neither dysmorphic features, physical abnormalities nor family members with ID. Out of the 461 subjects, 422 (91.5%) had between one and six associated impairments (total = 954), and the remaining 39 (8.5%) had SPID as their only impairment. Uncomplicated SPID was mainly of genetic or congenital origin, whereas all subjects with acquired encephalopathy had multiple disabilities. Speech defects, epilepsy and cerebral palsy were the most common associated impairments. Conclusions Severe and profound ID almost always occurs concomitantly with other severe neurological or psychiatric impairments. The proportion of people with SPID described in the present study is similar to that found in Finland in 1966. The aetiology of SPID in the vast majority of cases is biopathological.     

Prevalence of visual and hearing impairment in a Dutch institutionalized population with intellectual disability

A screening of hearing and visual function was performed using clinical assessment methods in a Dutch institutionalized population of 672 people with mild to profound intellectual disability (ID). Because the studied population was not comparable to the total Dutch population with ID, subgroups were distinguished according to level of ID, age younger and older than 50 years, and the presence or absence of Down's syndrome (DS). The prevalences of both hearing and visual impairment were considerably increased in all subgroups, as compared with the general population. In the least affected group, i.e. those < 50 years with a mild or moderate ID by other causes than DS, the prevalences of hearing and visual impairment were 21% and 4%, respectively (as opposed to 2–7% and 0.2–1.9% in the general Dutch population <50 years, respectively). The prevalence of hearing impairment showed a sharp and highly significant increase in individuals with DS and subjects ≥ 50 years. To a lesser extent, young adults with severe or profound ID had an increased risk of hearing impairment. Visual impairment and blindness were specifically highly prevalent in people with severe or profound ID (51% < 50 years of age). Down's syndrome and an age ≥ 50 years were also significant risk factors for visual impairment. There was an alarmingly high prevalence of combined sensory impairment, especially in those with severe or profound ID (20%). Although hearing impairment had been diagnosed prior to this screen in 138 people and visual impairment in 65 individuals, a first diagnosis of hearing impairment was made in 128 subjects and of visual impairment in 90 cases. This highlights the tendency for sensory impairments to go unnoticed in people with ID, which is not restricted to those with severe or profound ID. Therefore, the present authors stress the importance of regular screening as outlined in the existing IASSID international consensus statement.     

Interactions between seizure frequency, psychopathology, and severity of intellectual disability in a population with epilepsy and a learning disability

Despite observations associating lower IQ and psychopathology in epilepsy, the possible differential effects of varying severity of learning (intellectual) disability (LD) on the manifestation of psychopathology in people with LD and epilepsy have not been clarified. In this study of retrospectively collected data describing the epilepsy, learning disability, and psychopathology of 175 patients with epilepsy and LD over a 3-month period, we observed that 65 patients had no recent seizures, whereas 110 had experienced at least one seizure in the preceding 3 months. We found that depression and psychoses were more common in those with no seizures in the preceding 3 months, but that which of these psychiatric states was manifest was related to the severity of LD. Psychosis rates were higher in those with mild LD, whereas depression rates were higher in those with severe LD.     

Neonatal white matter abnormality predicts childhood motor impairment in very preterm children

Aim Children born very preterm are at risk for impaired motor performance ranging from cerebral palsy (CP) to milder abnormalities, such as developmental coordination disorder. White matter abnormalities (WMA) at term have been associated with CP in very preterm children; however, little is known about the impact of WMA on the range of motor impairments. The aim of this study was to assess whether WMA were predictive of all levels of motor impairments in very preterm children. Method Two hundred and twenty‐seven very preterm infants (<30wks gestational age or birthweight <1250g) had brain magnetic resonance imaging at term‐equivalent age to assess for WMA, which were categorized as nil, mild, or moderate to severe. At 5 years of age children were classified as having a moderate to severe motor impairment if they were below the 5th centile or mild to severe motor impairment if their score placed them no higher than the 15th centile on the Movement Assessment Battery for Children (MABC). WMA (nil vs mild and nil vs moderate–severe) were explored as predictors of motor impairment using logistic regression. Analyses were repeated adjusting for the effects of other perinatal variables and excluding children with CP. Results Of the 193 very preterm children (97 males, 96 females) assessed with the MABC, 53 (27%) were classified as having a moderate to severe motor impairment and 96 (50%) a mild to severe motor impairment. WMA were predictive of motor impairment in very preterm children, with mild versus no WMA increasing the odds of moderate to severe motor impairment by over fivefold (odds ratio [OR] 5.6; 95% confidence interval [CI] 1.9–16.1; p=0.002) and mild to severe impairment by twofold (OR 2.2; 95% CI 1.1–4.2; p=0.02). Compared with no WMA, moderate to severe WMA increased the odds for moderate to severe impairment 19‐fold (OR 19.4; 95% CI 5.6–66.7; p<0.001) and for mild to severe motor impairment ninefold (OR 9.4; 95% CI 3.2–28.1; p<0.001). Results remained similar after controlling for several potential confounders and after excluding 14 children who had CP at age 2 years. Interpretation WMA predict motor impairment at 5 years, with rates of impairment increasing with more severe WMA. Very preterm children with any WMA at term require follow‐up throughout childhood.     

Impairment after severe blunt head injury: the results from a consecutive series of 100 patients

Three scales, assessing the degree of brain impairment after severe blunt head injury in neurophysical and neuropsychological functions as well as overall organic functioning, are described. A consecutive series of 100 severe blunt head injured patients was followed up 6 years post-trauma and the scales were used to measure the residual impairments and determine the level of recovery for 82 subjects in the series. No subject made a complete neurophysical and neuropsychological recovery, 92% of the series was classified as suffering clinically significant impairments and in half the series the moderate or severe impairments were consistent with a poor level of recovery. The impairments of a large proportion (42%) of the series, however, were classified as mild. Although most subjects demonstrated impairments in both neurophysical and neuropsychological functions, 43% of the series suffered isolated impairments in either the neurophysical or neuropsychological areas. There was strong agreement between the overall organic impairment profile and the subjects' classifications on the Glasgow Outcome Scale.