Diagnosing autism: Contemporaneous surveys of parent needs and paediatric practice.

AIM: Concurrence between parents' information needs and clinicians' practice when diagnosing autism is unknown but may influence families' uptake of management and adjustment. We aimed to compare parents' experience and preferences with paediatrician report of (i) diagnosis delivery and (ii) information given at diagnosis and identify types and usefulness of resources accessed by families post-diagnosis. METHODS: The design used for the study are parent and paediatrician surveys. Participants are parents of children aged 1.5-18 years, diagnosed with autism between 01 January 2010 and 30 September 2012 and their paediatricians who are members of the Australian Paediatric Research Network. Study-designed quantitative and qualitative questions about diagnosis delivery and information given at diagnosis (written and spoken vs. neither) and parent perceived importance and harms of information accessed post-diagnosis. RESULTS: Paediatricians (53/198 (27%)) identified 1127 eligible families, of whom 404 (36%) participated. Parents were more likely to report receiving adequate time to discuss diagnosis than paediatricians (71 vs. 51%). Parents (98%) rated information about accessing allied health professionals and the meaning of diagnosis as most important, yet paediatricians offered written or spoken information about each infrequently (allied health: 22%; diagnosis: 42%). Post-diagnosis, allied health was the most important source of information (83%). Harmful resources conveyed helplessness or non-evidenced-based therapies, but few parents (14%) reported this. CONCLUSIONS: Parents want more information than can be conveyed in a single diagnostic consultation. Developing a tailored 'autism action plan' with written materials could improve parents' understanding of and satisfaction with children's autism diagnoses.

Diagnosing autism: Australian paediatric research network surveys.

AIM: Autism spectrum disorder (ASD) is a neurodevelopmental disorder with reported prevalence of more than 1/100. In Australia, paediatricians are often involved in diagnosing ASD and providing long-term management. However, it is not known how paediatricians diagnose ASD. This study aimed to investigate whether the way Australian paediatricians diagnose ASD is in line with current recommendations. METHODS: Members of the Australian Paediatric Research Network were invited to answer questions about their ASD diagnostic practice in a multi-topic survey and also as part of a study about parents needs around the time of a diagnosis of ASD. RESULTS: The majority of the 124 paediatricians who responded to the multi-topic survey and most who responded to the parent needs survey reported taking more than one session to make a diagnosis of ASD. Most paediatricians included information from preschool, child care or school when making a diagnosis, and over half included information from speech pathology or psychology colleagues more than 50% of the time. The main reasons for not including assessment information in the diagnostic process were service barriers such as no regular service available or long waiting lists. More than 70% reported ordering audiology and genetic tests more than half of the time. CONCLUSION: Not all paediatricians are following current recommendations for diagnosing ASD more than 50% of the time. While there are good reasons why current diagnostic approaches may fall short of expected standards, these need to be overcome to ensure diagnostic validity and optimal services for all children and their families.

Chocolate frogs do not increase completion of parent survey: randomised study.

Four months into a year-long, national survey assessing parents' experiences of a child's diagnosis of autism spectrum disorder, our response fraction was only 23%. We aimed to determine whether including a chocolate incentive in the postal survey would increase the response fraction. Families enrolled between 15 March and 25 May 2012 were randomised to receive a chocolate frog versus no chocolate frog. Both groups received a written reminder and replacement survey 2 weeks after the survey was posted and up to two telephone reminders thereafter. We analysed the effect of the incentive using χ(2) tests for the categorical response variable and t-tests for the continuous reminder and length of response variables at the end of (i) randomisation and (ii) the study (1 November 2012). A total of 137 families were randomised in the 6-week period. Parents who received an incentive were more likely to return a completed survey in the 6 weeks than those who did not (21% vs. 6%, P = 0.009). This effect faded by the end of the study (53% vs. 42%, P = 0.4). There were no differences between groups at either follow-up in the number of reminders that parents received or the number of days it took parents to return the survey. Including a chocolate-based incentive does not significantly increase response rate in a postal survey over and above standard reminder techniques like posting follow-up survey packs or phoning families.

How is paediatric chronic fatigue syndrome/myalgic encephalomyelitis diagnosed and managed by paediatricians? An Australian Paediatric Research Network Study.

AIM: The diagnosis and management of paediatric chronic fatigue syndrome/myalgic encepnalomyelitis (CFS/ME) represent ongoing challenges for paediatricians. A better understanding of current approaches at a national level is important in informing where research and education could improve treatment outcomes. We aimed to examine current diagnosis and management practices for CFS/ME by Australian paediatricians. METHOD: An online survey was sent to members of the Australian Paediatric Research Network. The primary outcomes of interest included diagnostic criteria used, medical investigations and management practices in paediatric CFS/ME. RESULTS: One hundred seventy-eight (41%) of 430 eligible paediatricians responded, with 70 of the 178 (39%) reporting that they diagnose and manage CFS/ME as part of their practice. Medical investigations used for diagnosis were variable. Conditions that more than half of the paediatricians reported as commonly co-occurring (i.e. present in >50% of cases) included somatisation disorders, anxiety, depression and fibromyalgia. There was wide variation in behavioural and pharmacological management strategies but most paediatricians commonly engaged a school teacher, physiotherapist and/or psychologist as part of their management. CONCLUSION: The diagnostic and management practices of paediatricians for CFS/ME within Australia vary widely. This likely reflects a paucity of paediatric-specific guidelines, together with limited evidence to guide best practice and limited training in this area. There is a need for guidance and education for the diagnosis and management of paediatric CFS/ME in Australia.

Paediatric chronic fatigue syndrome: complex presentations and protracted time to diagnosis.

AIM: The diagnosis and management of paediatric chronic fatigue syndrome (CFS) remain ongoing challenges for paediatric clinicians, particularly given its unknown aetiology and the little research on effective treatments for this condition. The aim of this study was to describe the presenting features of new patients attending a specialist chronic fatigue clinic at a tertiary-level Australian children's hospital. METHOD: The medical records of all patients with an initial consultation at the chronic fatigue clinic over a 12-month period were reviewed using a standardised data collection template. Functional impact was based on school attendance and classified according to the National Institute of Health and Clinical Excellence guidelines (2007). RESULTS: A total of 99 patients attending the clinic were identified. Of these, 59 were diagnosed with CFS. Median age was 15.4 years with almost two-thirds of patients of female sex. Median time between symptom onset and diagnosis was 15.5 months. There was a high occurrence of fatigue, sleep disturbance, pain, postexertional malaise, and autonomic and cognitive symptoms in the group. The functional impact of CFS was classified as mild for 20%, moderate for 66% and severe for 14% of patients. CONCLUSIONS: Most young people diagnosed with CFS experience symptoms for a protracted period, with considerable functional impact prior to initial tertiary service consultation. This audit has identified important areas for research, practice development and education in relation to the management of patients with CFS.

Upper Limb Onabotulinumtoxin A Injections in Children Under 2 Years with Cerebral Palsy: A Retrospective Chart Review.

Aim: To report on the safety of using Onabotulinumtoxin A (OnaA) in the upper limb(s) of children <2 years of age with cerebral palsy and to describe a proactive clinical model of care in the management of upper limb impairment in children with cerebral palsy. Methods and procedures: Retrospective chart audit of 65 infants aged 13-23 months (mean 18.69) who received upper limb OnaA injections. Administration procedures, trends in muscle selection, and adverse events were examined. Results: Adverse events were reported in 6 (4%) of the 65 children. Across the study period, muscles that control thumb and forearm movements were most commonly injected. The number of OnaA injections to subscapularis and flexor digitorum profundus increased over this period. Conclusions and implications: OnaA is a safe treatment option for the short-term management of focal upper limb muscle overactivity in children under 2 years of age with cerebral palsy. In line with existing evidence, OnaA should always be considered as an adjunct to evidence-based therapy.

Epidemiology of paediatric chronic fatigue syndrome in Australia.

OBJECTIVE: To estimate the paediatrician-diagnosed incidence of chronic fatigue syndrome (CFS) in Australia, and describe demographic and clinical features, as well as approaches to diagnosis and management. METHODS: The Australian Paediatric Surveillance Unit facilitates monthly national surveillance of uncommon conditions seen by paediatricians. Data from young people aged <18 years diagnosed with CFS were collected. Incidence was estimated based on new cases reported from April 2015 to April 2016. RESULTS: A total of 164 cases of newly diagnosed CFS in young people aged 4-17 years were identified for inclusion. The estimated national incidence for children aged 4-9 years was 0.25 per 100 000 per annum. In children aged 10-17 years, the estimated incidence of paediatrician-diagnosed cases for Victoria (17.48 per 100 000) was substantially greater than other Australian states (range 1.31-5.51 per 100 000). Most cases were female and Caucasian, most commonly presenting after an infectious illness with symptoms gradual in onset. The majority were diagnosed at least 13 months after symptom onset. Symptoms, associations, investigations and management strategies were highly variable. CONCLUSIONS: Current findings suggest that, consistent with other countries, the Australian incidence of CFS in children aged <10 years is very low. In contrast, the national incidence of CFS in older children and adolescents (aged 10-17 years) is more unclear, with marked variability between geographical regions apparent. This may be due to variation in service accessibility and clinician understanding of CFS. Accordingly, national initiatives to improve equity of care for children with CFS may be required.

Fat-Bone Interactions in Adults With Spina Bifida.

CONTEXT: Spina bifida (SB) can lead to changes in body composition and bone mineral density (BMD) through diminished ambulation, renal impairment, and anticonvulsant medication. With increased life expectancy, diseases such as obesity and osteoporosis are emerging comorbidities in SB, with limited data to guide management. OBJECTIVE: To examine the relationship between cardiometabolic factors, body composition, BMD, and minimal trauma fractures (MTFs) in adults with SB. DESIGN: Retrospective cross-sectional study. SETTING AND PARTICIPANTS: Forty-nine adults with SB (median age, 32.7 years; interquartile range, 22.6 to 39.0) who had undergone dual-energy x-ray absorptiometry imaging at a single tertiary hospital from 2004 to 2015. RESULTS: The mean body mass index was 31.7 ± 7.5 kg/m2; 26 (53.1%) were obese. Using age- and sex-matched fat percentiles from the National Health and Nutrition Examination Survey III, 62.5% had a total body percentage fat greater than the 95th percentile. Low bone mass (defined as a Z-score of ≤-2.0) was present in 21.9% at the L1 vertebra and in 35.1% at the femoral neck. Ten (20.4%) had a history of MTFs. A BMD or Z-score at L1, femoral neck, or total body site did not correlate with the occurrence of MTF. Fat mass was significantly and positively associated with BMD after adjustment for age, sex, and height and accounted for 18.6% of the variance in BMD (P = 0.005). The prevalence of metabolic comorbidities, such as hypertension (20.4%) and obstructive sleep apnea (16.3%), was high. CONCLUSIONS: Obesity and low BMD are common in young adults with SB. An increased fat mass correlated significantly with BMD. The prevalence of metabolic complications in patients with SB is increased and deserves further study.

Insights into the pathogenesis of cerebral lesions in incontinentia pigmenti.

We report the case of a neonate with incontinentia pigmenti and seizures on day 4 of life who underwent magnetic resonance imaging and angiography scanning at 8, 13, and 21 days of age. The serial magnetic resonance images demonstrated the evolution of acute microvascular hemorrhagic infarcts in the periventricular white matter in the first week of life. The associated magnetic resonance angiogram findings consisted of decreased branching and poor filling of intracerebral vessels. This report adds important insights into the nature and timing of cerebral lesions in incontinentia pigmenti.