Non-beneficial resuscitation during inhospital cardiac arrests in a metropolitan teaching hospital.

BACKGROUND: There is increasing recognition that a proportion of hospitalised patients receive non-beneficial resuscitation, with the potential to cause harm. AIM: To describe the prevalence of non-beneficial resuscitation attempts in hospitalised patients and identify interventions that could be used to reduce these events. METHODS: A retrospective analysis was conducted of all adult inhospital cardiac arrests (IHCA) receiving cardiopulmonary resuscitation (CPR) in a teaching hospital over 9 years. Demographics and arrest characteristics were obtained from a prospectively collected database. Non-beneficial CPR was defined as CPR being administered to patients who had a current not-for-resuscitation (NFR) order in place or who had a NFR order enacted on a previous hospital admission. Further antecedent factors and resuscitation characteristics were collected for these patients. RESULTS: There were 257 IHCA, of which 115 (44.7%) occurred on general wards, with 19.8% of all patients surviving to discharge home. There were 39 (15.2%) instances of non-beneficial CPR, of which 28 (72%) of 39 occurred in unmonitored patients on the ward comprising nearly one-quarter (28/115) of all arrests in this patient group. A specialist had reviewed 30 (76.9%) of 39 of these patients, and 33.3% (13/39) had a medical emergency team (MET) review prior to their arrest. CONCLUSIONS: Over one in seven resuscitation attempts were non-beneficial. MET reviews and specialist ward rounds provide opportunities to improve the documentation and visibility of NFR status.

Arginine:glycine amidinotransferase (AGAT) deficiency: Clinical features and long term outcomes in 16 patients diagnosed worldwide.

BACKGROUND: Arginine:glycine aminotransferase (AGAT) (GATM) deficiency is an autosomal recessive inborn error of creative synthesis. OBJECTIVE: We performed an international survey among physicians known to treat patients with AGAT deficiency, to assess clinical characteristics and long-term outcomes of this ultra-rare condition. RESULTS: 16 patients from 8 families of 8 different ethnic backgrounds were included. 1 patient was asymptomatic when diagnosed at age 3 weeks. 15 patients diagnosed between 16 months and 25 years of life had intellectual disability/developmental delay (IDD). 8 patients also had myopathy/proximal muscle weakness. Common biochemical denominators were low/undetectable guanidinoacetate (GAA) concentrations in urine and plasma, and low/undetectable cerebral creatine levels. 3 families had protein truncation/null mutations. The rest had missense and splice mutations. Treatment with creatine monohydrate (100-800 mg/kg/day) resulted in almost complete restoration of brain creatine levels and significant improvement of myopathy. The 2 patients treated since age 4 and 16 months had normal cognitive and behavioral development at age 10 and 11 years. Late treated patients had limited improvement of cognitive functions. CONCLUSION: AGAT deficiency is a treatable intellectual disability. Early diagnosis may prevent IDD and myopathy. Patients with unexplained IDD with and without myopathy should be assessed for AGAT deficiency by determination of urine/plasma GAA and cerebral creatine levels (via brain MRS), and by GATM gene sequencing.

Parent Perspectives on Augmentative and Alternative Communication Integration for Children With Fragile X Syndrome: It Starts in the Home.

Many children with fragile X syndrome (FXS) have complex communication needs and may benefit from augmentative and alternative communication (AAC). This qualitative study explored how four mother-child dyads used AAC in the home. Data were collected using participant observations, open-ended interviews, and record reviews, and analyzed using grounded theory methods. Findings revealed that mothers found AAC to be a useful tool for addressing their children's complex communication needs, but practical and personal factors impacted its use in the home. This study sheds light on how mothers of children with FXS view and utilize AAC as a way to promote communication at home. Understanding parental perspectives can help to guide professionals in planning appropriate AAC interventions specific to FXS.

Impact of specific medical interventions in early childhood on increasing the prevalence of later intellectual disability.

IMPORTANCE: For the past 100 years, medicine in industrialized nations has become increasingly focused on specific medical interventions designed to improve the health of individual patients. Substantial evidence suggests that broader improvements in public health, nutrition, and economic well-being are more salient than medical or surgical interventions for the remarkable decrease in infant and child deaths since 1900. Less is known about the impact of specific medical interventions on morbidity such as intellectual disability (ID). OBJECTIVE: To explore the impact of medical interventions in early childhood on increasing the prevalence of later ID, as reported in the literature from 1950 through 2000. DESIGN: We reviewed the medical literature and other data from 1950 through 2000 to construct estimates of the condition-specific prevalence of ID over time. We further explored the existing literature to document historically relevant influences on condition-specific prevalence, including the introduction of effective interventions, the timing of these introductions, and the likelihood of their widespread use. SETTING: Twentieth century United States and Western Europe. PARTICIPANTS: Populations of children who received a life-saving intervention within the first 5 years of life and were evaluated for ID after 5 years of age. MAIN OUTCOME MEASURES: Case-specific prevalence of ID from 1950 through 2000. RESULTS: Low birth weight is associated with approximately 10% to 15% of the total prevalence of ID. No other new medical therapies introduced during this period were associated with a clinically significant increase in ID prevalence. CONCLUSIONS AND RELEVANCE: Previous research has shown that specific medical interventions, such as newborn screening for congenital thyroid deficiency and phenylketonuria, have decreased the prevalence of ID approximately 16% in the United States since 1950. These results suggest that other medical interventions, particularly the advent of intensive care technologies, have also increased the prevalence of ID.