Severe Physical Handicaps Research Articles

Seroprevalence and risk factors of Toxoplasma gondii infection among pregnant women.

Toxoplasma gondii is an obligate intracellular parasite affecting a broad range of warm-blooded animals, including humans. Infection acquired during pregnancy can be transmitted to the fetus and leading to serious problems such as spontaneous abortion, stillbirth, or severe mental and/or physical handicaps in the child. The purpose of this study was to investigate the seroprevalence of Toxoplasma infection and related risk factors in pregnant woman. The study enrolled 1200 serum samples of pregnant women from February-November 2017. Then the samples were tested for the presence of anti-T. gondii antibodies (Ab) using enzyme-linked immunosorbent assay. Out of the 1200 samples, 381 (31.7%) and 41 (3.4%) subjects were positive for IgG and IgM Ab, respectively. Among the evaluated risk factors, the seroprevalence of Toxoplasma infection was not related to the occupation in a significant way. However significant relationship was observed with factors such as; contact with soil, cats, consumption of raw washed vegetables, and washed hands before meals. According to the results, more than two-thirds of pregnant women are susceptible to Toxoplasma infection, hence training health care programs should be provided to prevent infection.

Professionals’ Views on Offering Pre-Natal Testing for Adult Onset Cancer Susceptibility. Reconciling Personal and Professional Ethical Conflicts, Coping Strategies and Need for Policy Transparency

This paper explores views of healthcare professionals (HCPs) in genetics and foetal medicine settings on offering pre-natal diagnosis (PND) for adult onset cancer susceptibility (AOCS) genes. Study participants came from different disciplinary backgrounds and all had considered implications of offering PND for AOCS, directly or indirectly, from professional and personal perspectives. Foetal medicine and genetics teams are accustomed to offering PND with the possibility of terminating an affected foetus on the basis of preventing severe physical or mental handicap to the child [1, 2]. In this qualitative study, participants were invited to semi-structured interviews. Using a narrative approach, participants had space to follow their thought processes. Narratives were thematically analysed. Whilst participants predominantly agreed that PND for AOCS does not fulfil Ground E for termination, they acknowledged difficulties in defining ‘severe’ taking into account patients’ experiences and perspectives in the reproductive decision-making process. Findings indicated that many participants felt uneasy about the prospect of offering PND for a condition which does not, in their view, conform to the types of conditions typically seen and accepted in this context. Inconsistencies emerged around what participants think ‘is’ offered and what reproductive choices ‘should’ be offered to patients in this context. We discuss coping strategies used by HCPs to reconcile personal and professional ethical challenges. Offering Pre- implantation Genetic Testing (PGT) for AOCS is conflated with offering PND by some participants and we discuss possible reasons for this. We also explore potential impacts of PND for AOCS on mainstreaming cancer genetics. Our research demonstrates healthcare professionals’ resilience in aiming to deliver compassionate care despite their personal and professional ethical conflicts. We argue that making policy about PND transparent and accessible will support professionals who feel conflicted about offering PND in new contexts such as AOCS genes.

Quality of Life of Children with Cystic Periventricular Leukomalacia - A Prospective Analysis with the Child Health Questionnaire-Parent Form 50.

Cystic periventricular leukomalacia (PVL) is associated with moderate to severe physical and mental handicaps in preterm infants. We hypothesized whether or not those handicaps were associated with a poorer quality of life (QOL) of affected children and their families compared to matched controls. All children with the diagnosis PVL collected from a local database of the Division of Neonatology of the Medical University of Graz, Austria, and born between 1997 and 2008 were included in the study group. Preterm infants matched for gestational age, birth weight, year of birth, and gender without PVL served as controls. Selected perinatal data and neurological outcome were documented. The interview of the parents was conducted using the Child Health Questionnaire-Parent Form 50 (CHQ-PF50), German version. The CHQ-PF50 consists of 50 items divided over 11 multi-item scales and 2 single-item questions. The CHQ-PF50 was answered by 21 parents of the study (26%) and 44 of the control (39%) group. Cases were diagnosed as having developmental delay, dystonia, strabismus, central visual impairment, seizures, and cerebral palsy (81 vs. 7%, p < 0.001) more common than controls. Analysis of the CHQ-PF 50 revealed significantly poorer results for cases regarding physical health (physical functioning: p < 0.001, physical social limitations: p < 0.001, and physical summary score: p < 0.001). Several psychosocial categories (behavior, mental health, and self-esteem) and the psychosocial summary score did not differ between groups. Only two categories (parental impact concerning time p = 0.004 and family activities: p = 0.026) revealed significantly poorer results in the cases as it was for the global category for health (p = 0.009). Children with PVL had an overall poorer QOL regarding physical aspects. However, PVL was not generally associated with a poorer QOL regarding psychosocial aspects.

Overview of Clinical Cytogenetics.

Chromosome analysis is one of the first approaches to genetic testing and remains a key component of genetic analysis of constitutional and somatic genetic disorders. Numerical or unbalanced structural chromosome abnormalities usually lead to multiple congenital anomalies. Sometimes these are compatible with live birth, usually resulting in severe cognitive and physical handicaps; other times they result in miscarriage or stillbirth. Chromosome rearrangements also occur as somatic changes in malignancies. Identification of constitutional chromosomal anomalies (anomalies present in most or all cells of the body and/or the germline) can provide important information for genetic counseling. In this unit, we introduce chromosomal microarray analysis (CMA), which is a relatively recent addition to cytogenetic technologies, and has become the recommended first-tier testing method for patients with developmental delay, intellectual disability, autism, and/or multiple congenital anomalies. We also discuss non-invasive prenatal testing/screening (NIPTS), which uses circulating cell-free fetal DNA (cfDNA) from maternal plasma to rapidly screen for autosomal and sex-chromosome aneuploidies. Cytogenetic analysis of tumors is helpful in diagnosis and in monitoring the effects of treatment. The protocols in this chapter cover the clinical study of chromosomes in nonmalignant tissues.

Confirmation of the recurrent ACVR1 617G&gt;A mutation in South Africans with fibrodysplasia ossificans progressiva

Fibrodysplasia ossificans progressiva (FOP) is a rare genetic condition in which progressive ossification of fibrous tissue, tendons and ligaments leads to severe physical handicap. Most affected individuals who have been studied have a recurrent 617G>A mutation in the ACVR1/ALK2 gene that codes for activin A type 1 receptor/activin-like kinase 2. The majority of publications on the genetics of FOP have concerned whites or Asians, and no genetic information is available concerning sub-Saharan blacks. The aim of the project was to determine whether or not this mutation is present in affected persons in South Africa. Molecular mutational analysis was undertaken on genomic DNA from peripheral blood leukocytes from 6 affected South African of different population groups (4 Xhosa, 1 coloured, 1 white). The 6 persons with FOP were all heterozygous for the ACVR1/ALK2 617G>A mutation. This mutation was absent in 6 controls. Confirmation of the presence of this recurrent mutation facilitates diagnostic accuracy in affected persons in South Africa, and allows researchers to narrow the search for molecular targets for rational intervention to the ACVR1/ALK2 domain.

Living on the Edge

This essay describes a remarkable patient with severe medical and psychological problems who died a tragic death when she was only 46 years old. Despite suffering early coronary artery disease, persistent abuse from her spouse, and caring for a daughter with severe physical handicaps, the patient did not complain or seek pity for her condition. Rather, through her belief in God and a focus on the day forward rather than the day behind, she reminds clinicians that the sum of a person's life is more than their medical problems. After the patient's death, her husband's medical problems force him to seek care; this raised ethical issues because the doctor who was treating him also cared for his wife.

Research on Sports for the Severely Physically Handicapped:

Research on Sports for the Severely Physically Handicapped:

Astrocytic Inclusions in Epilepsy

We report the finding of unique astrocytic inclusions in a series of pediatric epilepsy patients, all of whom presented with seizures in their first year of life and had mild-to-moderate developmental delay. All eventually underwent surgical treatment for refractory epilepsy and, on pathological examination, were found to have distinctive, eosinophilic, globular cytoplasmic inclusions confined to cortical astrocytes. These inclusions were almost exclusively juxtanuclear, highly refractile, spared distal subpial, or perivascular astrocytic processes and were strongly and exclusively immunopositive for filamin A, an actin binding protein involved in neuronal migration. Identical inclusions have been identified and characterized in cases of Aicardi syndrome, a rare neurodevelopmental disease. The presence of the same inclusions in the cortex of epilepsy patients, some of whom had concomitant brain anomalies related to migrational problems, prompted us to consider that these patients may lie within a spectrum of disease involving dysfunction of filamin or filamin-interacting proteins. The term "filaminopathy" is tentatively proposed as a distinct pathological entity for this condition in which clinical manifestations range from epilepsy in mildly neurologically impaired patients to severe mental and physical handicap in the Aicardi syndrome. Future studies will be necessary to unravel the exact nature of the filamin A protein or gene aberrations in these patients.

Choice of Transplantation Techniques and Indications for Liver Transplantation in Polycystic Liver Disease in Patients With No Signs of End-Stage Liver Disease

Objective Since the initiation of the Liver Transplant Program, 500 liver procedures have been performed. Polycystic liver disease (PLD) and polycystic kidney-liver disease (PKLD) have been rare indications for orthotopic liver transplantation (OLT). Only 7 patients (1.4%) underwent transplantation due to PLD and PKLD. Materials and Methods The group consisted of 4 patients who underwent OLT (0.8%) and 3 patients who received simultaneous liver kidney transplantation (LKT; 0.6%). Our objective was to analyze the indications for either OLT or combined LKT as well as indications for surgical techniques during OLT among patients with PLD or PKLD. Results The main indication for OLT was massive hepatomegaly causing severe physical handicaps, fatigue, and clinically advanced malnutrition. All 3 patients with indications for combined LKT were dialysis-dependent. None of the patients had symptoms of end-stage liver disease and/or hepatic failure. In 4 cases, a portal bypass was applied, and the piggy-back method used in the other 3 cases. The hepatectomy caused no uncommon difficulty. In cases of simultaneous transplantations, the kidney was implanted separately after OLT. All patients are alive following the transplantation; major surgical complications have occurred. Conclusions Patients with PLD can undergo OLT safely with good results. They benefit from the relief of abdominal distension and anorexia. Patients with PKLD who are dialysis-dependent should undergo simultaneous LKT. The surgical technique was solely dependent on the intraoperative conditions determined during the dissection phase.

Prospektive Erfassung der direkten und indirekten Kosten des idiopathischen Parkinson-Syndroms

Idiopathic Parkinson's disease is a chronic progressive neurodegenerative disorder that remains refractory to curative treatment. Most patients are afflicted for many years, and the disease frequently results in severe physical handicap. Statements on the considerable cost of treatment are largely based on estimates and retrospective studies. To obtain more substantial data, we conducted a 3-year study of the economic aspects. Direct and indirect costs incurred by 117 patients (78 male, mean age 67.5 years) at the Deutsche Klinik für Diagnostik in Wiesbaden, Germany, were prospectively followed. The average cost per patient and month ran to <euro> 1007.55. Of that, direct costs amounted to <euro> 603.33 (55.9%), with drugs taking up the major share at <euro> 480.23. Indirect costs were <euro> 404.22 per patient and month, with 76% thereof related to nursing care and the incapacity to earn a living. Cost increased in proportion to Hoehn and Yahr stage, declining again with stages 4 and 5. The data we gathered confirm that Parkinsonism is responsible for sizeable expenses for not only the treating unit but the national economy as a whole.

Health-related quality of life in patients with chronic respiratory failure after long-term mechanical ventilation

This study was aimed at assessing health-related quality of life (HRQL) in patients with chronic respiratory failure (CRF) and long-term survival following prolonged intensive care mechanical ventilation. Observational cohort study. Patients with CRF who had been transferred to our specialized weaning centre due to prolonged mechanical ventilation (>14 days) and weaning failure. Out of 87 long-term survivors (>6 months), 73 patients (mean age: 60.3+/-13.6 years, chronic obstructive pulmonary disease (COPD, 43%), thoraco-restrictive (21%) or neuromuscular disorders (15%), various chronic diseases (22%)) returned the MOS 36-Item Short-Form Health Status Survey (SF-36) and the St. George's respiratory questionnaire (SGRQ). The total ventilation time was 38.7+/-45.9 days. The time between discharge from ICU and HRQL assessment was 31.0+/-22.2 months. Physical health was markedly reduced compared to general population norm, but mental health was mildly impaired. HRQL was comparable to patients with stable CRF receiving non-invasive ventilation who did not need prolonged invasive MV. In addition, general HRQL was better in patients with restrictive respiratory disease compared to patients with neuromuscular diseases (P<0.05). Physiological parameters such as blood gases or lung function parameters were not correlated to any HRQL measurements. In patients with CRF surviving prolonged ventilation on ICU, the presence of CRF itself is the major determinant of HRQL. Here, the underlying cause of CRF is the major factor which determines the degree of HRQL impairment with patients suffering from restrictive ventilatory disorders reporting the best HRQL when compared to patients with COPD or neuromuscular diseases. Despite severe physical handicaps due to CRF mental health is only mildly compromised.

Precocity of the acquisition of language and type II spinal muscular atrophy in 3–4-year-old children: a study of 12 cases

We studied the development of language in 3-4-year-old children with type II spinal muscular atrophy (SMA) (10 boys and two girls), aged 36-47 months (mean age 39.83+/-4.68 months) and compared our findings to a control group of 26 healthy children (mean age 40.00+/-4.43 months, 22 boys and four girls). We carried out a lexicogrammatical analysis of the data and we observed significant differences in the "vocabulary", "nouns", "verbs", "words" and "adverbs" variables between the children with SMA and the controls. Three- to four-year-old children suffering from type II spinal muscular atrophy, an autosomal genetic disease causing severe physical handicap (motor, functional, respiratory), presented a higher level of lexical and semantic development than the controls, demonstrating the precocity of development of morphosyntax in these children.

ROBOT ASSISTED PLAYING FOR SEVERE PHYSICALLY HANDICAPPED CHILDREN

The importance of playing for the cerebral development of children is well-known since many years. This paper addresses the central role of robotics and automation for making toys available to children with severe physical handicaps in order to provide this user group with comparable possibilities to share these experiences. A qualitative study has been carried out in order to find out how children with physical handicaps play in comparison with normal children. First results of this study are given in this paper. Based on the results of this study a dedicated robot system which supports children with the above mentioned handicaps for interaction with standard toys is being realized by ARC Seibersdorf research and is described in this article. First results from user trials are given and future development is outlined.

M.D.s Need to Be Alert To Sleep-Deprived Youth

M.D.s Need to Be Alert To Sleep-Deprived Youth

Factors influencing bone fractures in severely disabled persons.

Factors affecting bone fracture in severely disabled persons were evaluated. Bone mineral density was measured, and the ratio against the average values in healthy subjects was calculated. Seventy-three subjects were selected from among 113 inpatients with severe mental and physical handicaps. The subjects were classified into four levels of mobility. Multiple logistic regression analysis was conducted to determine the contribution of variables to the history of bone fracture. Age, medication of sodium valproate, and bone mineral density percentage were found to significantly affect bone fracture. Increase of bone mineral density is the protective or preventive factor in bone fracture.

Incidence and management of complications during posttraumatic early rehabilitation.

Early rehabilitation after traumatic brain injury has become a worldwide accepted interface between intensive care medicine and rehabilitation to aim for a better functional outcome of the surviving patients. So each chain can only be as strong as its weakest link, and there is still need for well defined quality standards depending on the medical demands during this period of treatment. Hence we were interested in quantifying the complications occurring until discharge to further rehabilitation with special regard on severe physical handicaps and organ failure necessitating surgical or intensive care therapy. Our results demonstrate that early rehabilitation is a part of intensive care medicine with enhanced approaches to preserve rehabilitation potential of the brain and for coma stimulation.

Liver transplantation for polycystic liver disease.

Polycystic liver disease (PLD) may provoke massive hepatomegaly and severe physical and social handicaps. Data on orthotopic liver transplantation (OLT) for PLD are rare and conflicting. Conservative surgery (resection or fenestration) is indicated for large single cysts, but its value for small diffuse cysts is questionable. In addition, conservative surgery is not devoid of morbidity and mortality. OLT offers the prospect of a fully curative treatment, but controversy remains because those patients usually have preserved liver function. Thus, we reviewed our experience with OLT for PLD. Sixteen adult women underwent OLT for small diffuse PLD between 1990 and 1999. Mean age was 45 years (range, 34 to 56 years). Fourteen patients had combined liver and kidney cystic disease, but only 1 patient required combined liver and kidney transplantation, whereas 13 patients underwent OLT alone. Two patients had isolated PLD. Indications for transplantation were massive hepatomegaly causing physical handicaps (n = 16), social handicaps (n = 16), malnutrition (n = 4), and cholestasis and/or portal hypertension (n = 5). OLT caused no technical difficulty in 15 of 16 patients (surgery duration, 6.8 hours; range, 5 to 8 hours), with blood transfusions of 7.9 units (range, 0 to 22 units). One patient who underwent attempted liver-mass reduction pre-OLT died of bleeding and pulmonary emboli. Native liver weight was 10 to 20 kg. Posttransplantation immunosuppression consisted of cyclosporine or FK506, azathioprine, and steroids (discontinued at 3 months). Morbidity included biliary stricture (2 patients), revision for bleeding and hepatitis (1 patient), pneumothorax and subphrenic collection (1 patient), and tracheostomy (1 patient). One patient died of lung cancer 6 years posttransplantation. Both patient and graft survival rates are 87.5% (follow-up, 3 months to 9 years). Of 15 patients who underwent OLT alone, only 1 patient needed a kidney transplant 4 years after OLT. Kidney function has remained satisfactory in the other patients despite the use of cyclosporine or FK506 (last follow-up creatinine level, 1.55 mg/dL; range, 0.80 to 2.85 mg/dL). OLT had a dramatic impact on daily quality of life, enabling these patients to go back to a fully active life style. OLT offers the chance of a definitive treatment in patients with extensive, small, diffuse PLD that has evolved into severely handicapping hepatomegaly. In contrast to previous studies, combined liver and kidney transplantation is rarely needed. Patient symptoms and chances of definitive palliation offered by OLT must be balanced against the risks of transplantation and lifelong commitment to immunosuppression.

Management and outcome of pregnancy in autoimmune hepatitis

BACKGROUNDThere is a paucity of data in the literature on the risks associated with, and optimal management of, pregnancy in patients with autoimmune hepatitis (AIH).AIMSTo assess maternal and fetal outcomes...

A Study of Acupuncture Treatment for Enuresis in Children with Mental and Physical Handicap

At a hospital for children with severe mental and physical handicap where the incidence of nocturnal enuresis exceeds 88%, a group of 128 children between the ages of 5 and 19 years (65% of those resident) were treated with acupuncture. The overall response showed good or very good benefit for 29% of patients, while 44% had none. The most responsive age group was the 10 to 14 year olds with 50% success; there was no difference between boys and girls. Children with the most severe mental retardation and those with day time faecal and urinary incontinence responded less well. The benefit felt by the whole hospital community at the reduction of bed wetting was substantial. The author believes that acupuncture for enuresis in mentally and physically handicapped children is an effective and worthwhile treatment.

Patterns of pregnancy loss, perinatal mortality, and postneonatal childhood deaths in families of girls with Rett syndrome.

Rett syndrome is a neurodevelopmental disorder that occurs predominantly in girls and results in severe physical and intellectual handicap. A popular genetic mechanism is an X-linked dominant disorder, lethal in males. A case control study design was used to investigate fetal wastage as indicated by reported miscarriage and stillbirth prevalence, and the prevalence and cause of reported neonatal and other childhood deaths. There was no disturbance in the sibling sex ratio when case and control families were compared. In the parental generation and in the proband generation miscarriages were reported in similar proportions in case and control families. The reported stillbirth rates in case families was almost double that in control families and reported perinatal loss was more common on the maternal side in case families than in control families. Stillbirths and neonatal deaths affected slightly more boys in the parental and proband generations of case families (19 of 30) than in control families (10 of 21). Childhood deaths also occurred a little more commonly in Rett syndrome families. Sudden infant death syndrome was reported in three siblings of Rett syndrome probands but in no control siblings. Confirmation of this pattern of perinatal loss and infant mortality could indicate an alternative expression of the Rett syndrome gene.