ABCC9-related Intellectual disability Myopathy Syndrome is a KATP channelopathy with loss-of-function mutations in ABCC9.

Mutations in genes encoding KATP channel subunits have been reported for pancreatic disorders and Cantú syndrome. Here, we report a syndrome in six patients from two families with a consistent phenotype of mild intellectual disability, similar facies, myopathy, and cerebral white matter hyperintensities, with cardiac systolic dysfunction present in the two oldest patients. Patients are homozygous for a splice-site mutation in ABCC9 (c.1320 + 1 G > A), which encodes the sulfonylurea receptor 2 (SUR2) subunit of KATP channels. This mutation results in an in-frame deletion of exon 8, which results in non-functional KATP channels in recombinant assays. SUR2 loss-of-function causes fatigability and cardiac dysfunction in mice, and reduced activity, cardiac dysfunction and ventricular enlargement in zebrafish. We term this channelopathy resulting from loss-of-function of SUR2-containing KATP channels ABCC9-related Intellectual disability Myopathy Syndrome (AIMS). The phenotype differs from Cantú syndrome, which is caused by gain-of-function ABCC9 mutations, reflecting the opposing consequences of KATP loss- versus gain-of-function.

[Congenital toxoplasmosis with ocular involvment--case report]. / Toxoplasmoza Folezz congenitala (afectare oftalmologica)--caz clinic.

Two thirds of the congenital toxoplasmosis cases describe minimal or inapparent symptoms present at birth, being diagnosed from a psychomotor retard. The forms of chorioretinitis may be described by repeated outbursts in the first years of life. Chorioretinitis or focal necrotizing retinitis usually develops in a bilateral way, being progressive and leading to blindness. Usually there is only one focal inflammatory beginning at the edge of a pigmented scar and the local inflammatory process may extend through successive spikes in other regions of the retina. Active chorioretinitis is expressed clinically by a blurred misty eyesight, with the advent of scotomas, photophobia, and if the macula is involved, the loss of the central eyesight may occur. In this paper I present the patient R.A., 6 years old from Constanta who is hospitalized in the Clinic of Infectious Diseases for investigations and treatment continuity because positive IgG Toxoplasma was previously found. The child has spastic quadriplegia and profound mental retardation.

Longitudinal HCR-20 scores in a high-secure psychiatric hospital.

BACKGROUND: The HCR-20 is a widely used 20 item structured professional judgement aid to risk assessment and management, but longitudinal studies of its value are rare, particularly with people at high risk of reoffending. AIMS: To investigate whether the HCR-20 discriminates between patient subgroups in one high-security hospital in England, whether scores reduce with hospital treatment and whether lower scores predict discharge. METHODS: Repeated HCR-20 ratings were made by clinical teams across five services within the hospital, two of them (women and men with intellectual disability) national services. A database of 3337 HCR-20 ratings, from 532 patients over a period of 5 years, was examined using mixed effects models. RESULTS: As expected, HCR-20 scores were high overall, but there were differences between services in the ratings obtained. Female patients and men with intellectual disability had the highest total score. There was a significant relationship between discharge and lower clinical risk score, but not between total and risk scale scores and discharge. There were significant changes in scores over time, although these were small and may not be clinically meaningful. Differences between services were observed, with women evidencing greater change. CONCLUSIONS: It is unsurprising that patients in two national services (for men with intellectual disability and women) have the highest HCR-20 scores; however, the finding of relatively greater risk reduction in women needs further investigation. Although we did not find ceiling effects in this sample, the clinical value of frequently repeated HCR-20 ratings may be limited for high-risk populations where any change is likely to be slow.

The association between repetitive, self-injurious and aggressive behavior in children with severe intellectual disability.

We evaluated the independent association between adaptive behavior, communication and repetitive or ritualistic behaviors and self-injury, aggression and destructive behavior to identify potential early risk markers for challenging behaviors. Data were collected for 943 children (4-18 years, M = 10.88) with severe intellectual disabilities. Odds ratio analyses revealed that these characteristics generated risk indices ranging from 2 to 31 for the presence and severity of challenging behaviors. Logistic regressions revealed that high frequency repetitive or ritualistic behavior was associated with a 16 times greater risk of severe self-injury and a 12 times greater risk of showing two or more severe challenging behaviors. High frequency repetitive or ritualistic behaviors independently predict challenging behavior and have the potential to be early risk markers for self-injury and aggression of clinical significance.

Mass infection with Entamoeba histolytica in a Japanese institution for individuals with mental retardation: epidemiology and control measures.

After two cases of amoebic colitis were detected at an institution for the mentally retarded in the Yamagata prefecture of Japan, the prevalence and epidemiology of Entamoeba histolytica infection at the institution were investigated. When the 76 residents with mental retardation were checked by serology and stool examinations, 40 (53%) showed evidence of infection with E. histolytica (i.e. E. histolytica-specific antibodies in their serum, Entamoeba cysts in their stools, and/or E. histolytica-specific antigens in their stools). The cysts were all assumed to be those of E. histolytica since all nine of the 18 cyst-positive stool samples investigated using a PCR (that distinguishes E. histolytica from E. dispar) were found positive for this species. The E. histolytica found in the institution in Yamagata appears to have been brought into the institution, from a similar institution in Kanagawa prefecture, by a mentally retarded individual who relocated from Kanagawa to Yamagata. Isolates of E. histolytica recovered during an outbreak in the institution in Kanagawa appear genotypically identical to the genotyped isolates collected in the outbreak investigated in the present study. The 40 infected individuals in Yamagata were each treated for 10 days with metronidazole or diloxanide furoate. The residents and staff of the institution were encouraged to wash their hands more frequently and more thoroughly, and the staff were asked to clip residents' fingernails and to improve the cleanliness/sterilization of the surfaces in the institution that were most likely to be contaminated with E. histolytica (lavatories, handrails, doors, doorknobs, washrooms, clothing etc). In the last 5 years of follow-up since the instigation of these and other infection-control measures, and the last treatments, no cases of E. histolytica infection have been found in the institution. This encouraging result offers hope and guidance to those attempting to control outbreaks of E. histolytica infection in other institutions.

[Persistent neurological sequelae due to cerebral malaria in a cohort of children from Mali]. / Séquelles neurologiques persistantes dues au paludisme cérébral dans une cohorte d'enfants au Mali.

INTRODUCTION: Several neurological complications are associated with cerebral malaria (CM). However, few long-term data from childhood survivors have been published. METHODS: A cross-sectional study was carried out in Mali among children followed from 1999 to 2002 after serious and complicated malaria. Our aim was to evaluate the persistent neurological sequelae associated with CM. RESULTS: This study concerned 101 subjects who had had CM. Mean age was 5.6+/-3.6 years. Twenty-eight children presented persistent neurological sequelae (27.7p.cent). Among them eight (7.9p.cent) children had developed these sequelae just after CM and 20 (19.8p.cent) a few months later: headaches, mental retardation, speech delay, bucco-facial dyspraxia, diplegia and frontal syndrome (one case each), dystonia (two cases), epilepsy (five cases) and behavior and attention disorders (15 cases). CONCLUSIONS: In this study, we show that neurological signs due to CM can persist in the long run. Long-term follow-up and proper management after CM are essential.

Study of the incidence of intestinal and systemic parasitoses in a group of children with handicaps.

A high incidence of parasitic infections was shown by the study of children with physical and psychic handicaps. In 231 children examined we diagnosed 294 parasitic infections as follows: 42 (18.1%) with Giardia intestinalis 6 (2.59%) with Entamoeba histolytica 36 (15.5%) with Hymenolepis nana 21 (9.9%) with Strongyloides stercoralis 16 (6.9%) with Ascaris lumbricoides 92 (39.86%) with Tricocephalus dispar 38 (16.4%) with Enterobius vermicularis 7(3.03%) with Cryptosporidium sp. Also, by immunodiagnosis 29 cases of Toxoplasmosis (12.5%) and 7 cases of Toxocarosis (3.03%) were pointed out. The clinical examination revealed that the main symptoms were troubles of appetite (both anorexia and hyperorexia)-67.9% intestinal transit disorders-48.4% cutaneous rash (4.7%). Two series of specific treatments diminished the incidence at 38% (after the first) and at 28.5% (after the second). By disappearance of the troubles due to the parasitic infections, the state of children with physical and psychic handicaps clinically improved; so, we may consider as a further necessity the screening of all those children for such diseases.

Parasitic infections associated with mental retardation in Egypt.

Examination of 150 mentally retarded patients for parasitic infections by urine and stool analysis revealed that 115 (76.67%) were positive. The most prevalent parasites found were T. trichiura in 56%, A. lumbricoides in 40.6% and A. duodenale in 21.33%. Double infection was present in 30.67%, triple infection in 15.33% and quadriple infection in 6%. Eosinophilia was detected in 91 (64.08%) of 142 examined cases, all were suffering from intestinal parasites. S. stercoralis was present in 11.33% by stool examination and culture and in 24 (60%) out of 40 examined cases by the IFAT. Toxocara antibodies were present in 38 (56.72%) out of 67 examined cases by the IFAT. Toxoplasma antibodies were present in 106 (74.65%) out of 142 examined cases by the IFAT.

[A survey of giardiasis in an asylum for mentally retarded children].

A 10-year-old mentally retarded girl from an asylum in northern Taiwan was diagnosed to have giardiasis with malabsorption syndrome at the Department of Pediatrics, National Taiwan University Hospital in 1983. A survey for giardiasis in 239 children living in the same asylum was therefore performed. Stool specimens were collected from all children, and giardia was examined simultaneously by formalin-ether concentration method and polyvinyl alcohol preservation followed by Trichrome stain. Forty one cases (17.2%) of giardiasis were detected by the former method while 48 cases (20.1%) by the latter method. Abnormally low stool trypsin activity was found in 38 of the 42 cases (90.5%) tested and the activity returned to normal in 50% of patients after successful treatment. Endoscopic examination and intestinal biopsy of upper gastrointestinal tract were performed in 12 cases. Among them, 4 were found to have nodular lymphoid hyperplasia, lymphoid hyperplasia in 7, and increased mononuclear cell infiltration in lamina propria in 7. Forty patients were treated with metronidazole 250 mg three times a day for 5 days. Follow-up stool examinations revealed that 12 children (30%) still passed giardia in their stools 4 months after treatment. Reinfection and inadequate sensitivity of the initial screening test may be used to account for such a high rate of treatment failure.

An outbreak of Trichuris trichiura in a mental handicap hospital.

An outbreak of Trichuris trichiura in a ward for the severely mentally handicapped affected 22 of 29 patients. There was concurrent carriage of non-pathogenic Entamoeba histolytica in 59% of these patients. Heavy contamination of soil was found in the patients' recreation area. The management of the outbreak is discussed.

Human cases of infection with canine whipworms, Trichuris vulpis (Froelich, 1789), in Japan.

The eggs of Trichuris, detected in the feces of 19 persons who had stayed in institutions for mentally retarded and/or multi-handicapped patients, were identified as those of T. vulpis (Froelich, 1789) on the basis of morphological features. This is the first record of human infection with the canine whipworm in Japan.

The occurrence of human intestinal parasites in Finland.

A survey of the occurrence of intestinal parasites covered 243 inmates of institution for the mentally retarded, 537 hospital patients from 4 areas, 100 military servicemen, and 65 prisoners. Two faecal samples from each patient were examined by the formalin-ether concentration technique. Among the mentally retarded the prevalence of intestinal parasites was high, 41.3% among children and 51.5% among adults. The commonest parasite was Entamoeba coli. In Helsinki, the prevalence among children in hospital was only 7%, but among adult out patients, 18.9%. Among hospital patients in other areas, military servicemen, and prisoners in Helsinki the prevalence of intestinal parasites was low. The high prevalence of this protozoon, 14.8% among adult out-patients in Helsinki, probably reflects the increase in tourism. Four cases of Trichuris infection were detected among the mentally retarded.