Community-based rehabilitation for those people with a physical disability is a policy promoted by the World Health Organization. In order to assess whether such a program might be useful to the disabled people of the highlands of Papua New Guinea a survey was conducted which first identified those people with a severe physical disability and then investigated the degree that they were handicapped in terms of their social and physical environment. The survey was performed in the Tari area of the Southern Highlands Province in conjunction with the Papua New Guinea Institute of Medical Research (PNGIMR). By using the PNGIMR demographic surveillance system it was possible to calculate a prevalence level of physical disability (including walking disability, deafness and blindness) of 46 per 10,000 (0.46%). A significant physical disability was identified in 114 people, of whom 54 were given personal interviews to establish their quality of life. The survey found the social and economic situation of disabled people to be generally good although there is a lack of basic material aids for handicapped people. The disabled people and their families do not need extra knowledge about how to care for their disabilities and a formal community-based rehabilitation program would be inappropriate, but they would find mobility aids such as wheelchairs and artificial limbs of enormous help. The regular health care services are widely used although both people with a disability and health service staff are not always aware of the types of treatment which can usefully be provided.(ABSTRACT TRUNCATED AT 250 WORDS)
Disabled Persons ; Physical disability ; Disability, NOS ; Community ; Surveys

Diagnostic exome sequencing (DES) is a powerful tool to analyze the pathogenic variants leading to development delay (DD) and intellectual disability (ID). Recently, heterozygous de novo mutation of the histone acetyltransferase encoding gene KAT6B has been recognized as causing a syndrome with congenital anomalies and intellectual disability, namely Say-Barber-Biesecker-Young-Simpson (SBBYS) syndrome. Here we report a case of SBBYS syndrome in a third generation Korean family affected with a missense mutation in KAT6B, c.2292C>T p.(His767Tyr) identified by DES. This is the first confirmed familial inherited mutation of the KAT6B reported worldwide. Our case emphasizes again the importance of basic physical examination and taking a family history. Furthermore, advances in genetic diagnostic tools are becoming key to identifying the etiology of DD and ID. This allows a physiatrist to predict the disease's clinical evolution with relative certainty, and offer an appropriate rehabilitation plan for patients.
Exome* ; Family Characteristics* ; Histone Acetyltransferases ; Humans ; Intellectual Disability ; Mutation, Missense ; Physical Examination ; Rehabilitation

PURPOSE: The purpose of this study is to identify the effects of a physical activity program on the physical fitness in persons with intellectual disabilities. METHODS: The study design was an equivalent control group pre-post test. The treatment group received ths physical activity program five times per week for 20 weeks. Data were collected from the treatment group at two time points: Week 1 and Week 20 following the initiation of the treatment protocol. Data were collected from the control group at the ends of week 1 and Week 20. Data analysis was performed using the IBM SPSS v.21.0 software program. RESULTS: The experimental group showed a significant reduction of physical fitness: basic of physical fitness (t=-2.07, p=.041), flexibility (t=2.25, p=.027), muscular strength (t=2.70, p=.009), agility (t=-3.35, p=.001), except for sense of balance (t=-0.91, p=.368), while control group showed no change in these variables. CONCLUSION: The findings of this study suggest that the physical activity program has proved to be a stable and physically active intervention program for physical activity in intellectually disabled persons.
Clinical Protocols ; Disabled Persons* ; Evaluation Studies as Topic ; Humans ; Intellectual Disability ; Motor Activity* ; Physical Fitness* ; Pliability ; Statistics as Topic

The Ability for Basic Movement Scale (ABMS) II has been introduced recently in some institutions for assessment of motor function in hemiparesis patients. This scale can estimate 5 important basic movements (turn over from supine position, sit up, remain sitting, stand up and remain standing). However, this scale has not been used in patients with Parkinson's disease (PD). The purpose of this study was to determine the association among ABMS II, lower leg muscle strength, activity of daily living (ADL) and neurological deterioration in PD patients. Forty-nine patients with PD were studied (mean age at evaluation: 73.8 ± 15.9 years; time between onset and evaluation: 33.8 ± 44.2 months, ± standard deviation). All patients underwent assessments with ABMS II, Barthel index (BI), lower limb muscle strength and Unified Parkinson's Disease Rating Scale (UPDRS) Part 3. ABMS II correlated significantly with UPDRS Part 3 and BI, and moderately with lower leg muscle strength. There was no correlation between UPDRS Part 3 and lower leg muscle strength. The study demonstrated that ABMS II score was associated significantly with neurological deterioration, ADL and lower leg muscle strength in patients with PD. We advocate the use of ABMS II by physical therapist for the assessment of PD patients.
Activities of Daily Living ; Disability Evaluation ; Humans ; Leg ; Lower Extremity ; Muscle Strength ; Paresis ; Parkinson Disease* ; Physical Therapists ; Supine Position

The linear nevus sebaceous syndrome is a rare eurocutaneous syndrome that may be accompanied by ocular abnormalities. It consists of the triad of characteristic midline facial linear nevus sebaceous, neurologic abnormalities which may include cerebral and cerebellar hypoplasia, widening of the subarachnoid space, seizures, and mental retardation and ocular abnormalities that may include conjunctival lipodermoids, colobomas of the lids, iris, choroid, and disc, angiomas of the orbit, osseous choristomas of the choroid, and subretinal neovascularization. We experienced a 5 month-old patient who has normal gestational periods and karyotype 46, XY at chromosomal study. On physical examination, he was found to have a linear nevus sebaceous in the right midline of face and scalp. On ocular examination, he was found to have lipodermoid, optic atrophy, peripapillary staphyloma, macular hypogenesis and osseous choristoma of the choroid. CT scan showed widening of the subarachnoid spaces and cerebral and cerebellar hypoplasia. Histopathologically it was proved as nevus sebaceous. We report this unusual case with literature review.
Choristoma ; Choroid ; Coloboma ; Hemangioma ; Humans ; Infant ; Intellectual Disability ; Iris ; Karyotype ; Nevus* ; Optic Atrophy ; Orbit ; Physical Examination ; Scalp ; Seizures ; Subarachnoid Space ; Tomography, X-Ray Computed

Epidermal nevus syndrome is defined as the association of epidermal nevi with abnormalities of the other organ systems, and is regarded as one of the neurocutaneous syndromes. However, till now, epiderrnal nevus syndromi has not been reported with either Morning glory syndrome or intestinal pseudoobstruction. We experienced a case of a 7-year old rnale who had had multiple epidermal nevi on the scalp and forehead and solitary larg cafeau lait spot on his chest since birth. He had histories of failure to thrive and mental retardation, but no seizures. He also had histories of frequent diarrhea and abdominal distension. Physical examination showed abnormalities of the skin, teeth, and Morning glory syndrome of both oplic discs. Colon study, small bowel series and biopsy showed intestinal pseudoobstruction. Skeletal survey revealed a difference between the left upper extremity and the right one.
Biopsy ; Child ; Colon ; Diarrhea ; Failure to Thrive ; Forehead ; Humans ; Intellectual Disability ; Intestinal Pseudo-Obstruction* ; Neurocutaneous Syndromes ; Nevus* ; Parturition ; Physical Examination ; Scalp ; Seizures ; Skin ; Thorax ; Tooth ; Upper Extremity

PURPOSE: This research was conducted to compare the effects of drug therapy, physical therapy, and exercise on pain, disability, and depression in patients with chronic low back pain. METHODS: The research design of this study was a nonequivalent control group pretest-posttest design. The subjects of this study were 28 patients for the drug therapy & physical therapy, 24 patients for the drug therapy & exercise, and 22 patients for the physical therapy & exercise. Data was collected by MVAS, Oswestry disability questionnaires, and questionnaires of depression. It was analyzed by paired t-test for effectiveness, ANOVA, and Scheffe for comparison of the effects of the 3 experimental treatments, using SPSS/WIN 12.0. RESULTS: There were no effects of drug therapy & physical therapy on pain, disability, and depression. However, there were effects of drug therapy & exercise and the physical therapy & exercise on pain, disability, and depression. The effects of physical therapy & exercise on pain, disability, and depression were the greatest, but there was no statistically significant differences between the drug therapy & exercise and the physical therapy & exercise. CONCLUSIONS: Exercise is regarded as a more effective and easily accessible nursing intervention to apply alone than drug therapy or physical therapy simultaneously in reducing pain, disability and depression.
Adult ; Depression ; Disability Evaluation ; *Exercise Therapy ; History, Ancient ; Humans ; Low Back Pain/drug therapy/nursing/*therapy ; Male ; Models, Nursing ; Pain ; *Physical Therapy Modalities ; Questionnaires

BACKGROUND: When performing dental treatment under general anesthesia in adult patients who have difficulty cooperating due to intellectual disabilities, anesthesia induction may be difficult as well. In particular, patients who refuse to come into the dental office or sit in the dental chair may have to be forced to do so. However, for adult patients with a large physique, physical restraint may be difficult, while oral sedatives as premedication may be helpful. Here, a retrospective analysis was performed to investigate the effect of oral sedatives. METHODS: A hospital-based medical information database was searched for patients who were prescribed oral midazolam or triazolam between January 2009 and December 2017. Pre-anesthesia evaluation, anesthesia, and anesthesia recovery records of all patients were analyzed, and information on disability type, reason for prescribing oral sedatives, prescribed medication and dose, cooperation level during anesthesia induction, anesthesia duration, length of recovery room stay, and complications was retrieved. RESULTS: A total of 97 patients were identified, of whom 50 and 47 received midazolam and triazolam, respectively. The major types of disability were intellectual disabilities, autism, Down syndrome, blindness, cerebral palsy, and epilepsy. Analyses of changes in cooperation levels after drug administration showed that anesthesia induction without physical restraint was possible in 56.0% of patients in the midazolam group and in 46.8% of patients in the triazolam group (P = 0.312). CONCLUSIONS: With administration of oral midazolam or triazolam, general anesthesia induction without any physical restraint was possible in approximately 50% of patients, with no difference between the drugs.
Adult ; Anesthesia ; Anesthesia, General ; Autistic Disorder ; Blindness ; Cerebral Palsy ; Dental Offices ; Down Syndrome ; Epilepsy ; Humans ; Hypnotics and Sedatives ; Intellectual Disability ; Midazolam ; Premedication ; Recovery Room ; Restraint, Physical ; Retrospective Studies ; Triazolam

INTRODUCTIONDiabetes mellitus (DM) is a chronic disease that is prevalent in many countries. The prevalence of DM is on the rise, and its complications pose a heavy burden on the healthcare systems and on the patients' quality of life worldwide.

MATERIALS AND METHODSThis is a multicentre, cross-sectional study involving 5 Health Clinics conducted by Family Medicine Specialists in Malaysia. Convenience sampling of 100 respondents with DM were selected. The International Classifi cation of Functioning, Disability and Health (ICF) based measures were collected using the Comprehensive Core Set for DM. SF-36 and self-administered forms and comorbidity questionnaire (SCQ) were also used.

RESULTSNinety-seven percent had Type 2 DM and 3% had Type 1 DM. The mean period of having DM was 6 years. Body functions related to physical health including exercise tolerance (b455), general physical endurance (b4550), aerobic capacity (b4551) and fatiguability (b4552) were the most affected. For body structures, the structure of pancreas (s550) was the most affected. In the ICF component of activities and participation, limitation in sports (d9201) was the highest most affected followed by driving (d475), intimate relationships (d770), handling stress and other psychological demands (d240) and moving around (d455). Only 7% (e355 and e450) in the environmental category were documented as being a relevant factor by more than 90% of the patients.

CONCLUSIONThe content validity of the comprehensive ICF Core set DM for Malaysian population were identified and the results show that physical and mental functioning were impaired in contrast to what the respondents perceived as leading healthy lifestyles.

Adult ; Aged ; Cross-Sectional Studies ; Diabetes Mellitus ; classification ; epidemiology ; Disability Evaluation ; Female ; Health Status ; Humans ; International Classification of Diseases ; Malaysia ; epidemiology ; Male ; Middle Aged ; Physical Endurance ; Quality of Life ; Surveys and Questionnaires ; Young Adult

In pseudohypoparathyroidism as reported by Albright in 1942, the parathyroid gland can normally synthesize and secrete parathyroid hormone(PTH). Pseudohypoparathyroidism has a similar biochemical finding with hypoparathyroidisms like hypocalcemia and hyperphosphatemia due to target tissue resistance to PTH. Administered PTH does not raise the serum levels of calcium and urinary phosphate. PTH activates G-protein in peripheral tissue and adenylate cyclase through a second messenger, cAMP. Pseudohypoparathyroidism produces hyperphosphatemia and hypocalcemia because of the resistance to PTH in peripheral tissue due to a defect of G-protein, although it releases PTH normally. According to the mechanism of resistance, pseudohypoparathyroidism is classified into types: Ia, Ib, Ic and psedopseudohypoparathyroism. Type Ia is accompanied by congenital growth retardation and abnormal bony development that shows mental retardation, obesity, low height, round face, short metacarpal bone and metatarsal bone, ectopic calcification, etc. We report a case of pseudohypoparathyroidism in a premature who shows hypocalcemia, hyperphosphatemia, elevation of serum PTH and 24 hr urinary basal c-AMP in biochemical tests without Albright's hereditary osteodystrophy at physical examination, accompanied by a spontaneous fracture in the femur.
Adenylyl Cyclases ; Calcium ; Femur ; Fractures, Spontaneous ; GTP-Binding Proteins ; Humans ; Hyperphosphatemia ; Hypocalcemia ; Infant, Newborn ; Infant, Premature* ; Intellectual Disability ; Metatarsal Bones ; Obesity ; Parathyroid Glands ; Physical Examination ; Pseudohypoparathyroidism* ; Second Messenger Systems