1. Jefferson AL, Woodhead HJ, Fyfe S, Briody J, Bebbington A, Strauss BJ, et al. {{Bone mineral content and density in Rett syndrome and their contributing factors}}. {Pediatr Res}. 2010 Dec 20.
This study used densitometry to investigate the areal bone mineral density (aBMD) and bone mineral content (BMC) in an Australian Rett syndrome cohort and assess how factors such as genotype, epilepsy, BMI and mobility affect these parameters. The influence of lean tissue mass (LTM) and bone area (BA) on total body BMC (TBBMC) was also investigated. Participants, recruited from the Australian Rett Syndrome Database (ARSD), had TBBMC and lumbar spine (LS) and femoral neck (FN) aBMD measured using Dual energy X-ray absorptiometry. Mean height standardised z-scores and confidence intervals for the bone outcomes were obtained from multiple regression models. The mean height z-score for the FN aBMD was low at -2.20, while the LS aBMD was -0.72. The TBBMC mean height z-score was -0.62, although once adjusted for BA and LTM the mean was above zero, suggesting that low BMC can be explained by narrow bones and decreased muscle mass, likely secondary to decreased mobility. Multiple linear regression identified the p.R168X and p.T158M mutations as the strongest predictors of low aBMC and BMD for all bone outcomes. The strong relation between genotype, BMC and aBMD, is likely underpinned by the strong relation between LTM, mobility and bone outcome measures. ABBREVIATIONS:
2. McHugh L, Bobarnac A, Reed P. {{Brief Report: Teaching Situation-Based Emotions to Children with Autistic Spectrum Disorder}}. {J Autism Dev Disord}. 2010 Dec 24.
Many individuals with autism spectrum disorders (ASD) have difficulty recognizing emotions in themselves and others. Three children (all males) participated in the study. In a multi-element design children with ASD were trained to tact situation-based emotions (i.e., « happy », « sad », « angry », and « afraid ») using novel video based scenarios. To increase the likelihood that each child would learn a generalized repertoire of emotion understanding, multiple exemplars of emotion identification were trained using a multi-component procedure. The results indicated significant increases in tacting situation-based emotions. To evaluate the generalization of training, novel video stories were employed that depicted the trained emotions. The findings indicated generalization of situation-based emotional tacting to the novel video stories.
3. Roende G, Ravn K, Fuglsang K, Andersen H, Vestergaard A, Brondum-Nielsen K, et al. {{Patients with Rett syndrome sustain low-energy fractures}}. {Pediatr Res}. 2010 Dec 20.
We present the first case-control study addressing both fracture occurrence and fracture mechanisms in Rett syndrome (RTT). Two previous studies have shown increased fracture risk in RTT. This was also our hypothesis regarding the Danish RTT population. Therefore, we investigated risk factors associated with low-energy trauma and the association to Methyl-CpG-binding protein 2 (MECP2) mutations. A total of 61 female Rett patients and 122 healthy controls matched according to age and pubertal/menopause status were examined by questionnaires, bone biochemical markers in blood, clinical and X ray evaluations. National register search on fracture diagnoses was done to obtain complete fracture histories. Our results showed that Rett patients sustained significantly more low-energy fractures from early age compared to controls, even though overall fracture occurrence apparently was not increased. Low-energy fractures were significantly associated with less mobility and lack of ambulation. Associations with MECP2 mutations or epilepsy were not demonstrated, contrary to previous findings. Blood biochemistry indicated a possible need for D vitamin supplementation in RTT. Our study casts light on fracture occurrence in RTT and points to a need for future research in bone development and fracture risk to establish directions for improved prevention and treatment of low-energy fractures in RTT. ABBREVIATIONS::
4. Spector JE. {{Sight Word Instruction for Students with Autism: An Evaluation of the Evidence Base}}. {J Autism Dev Disord}. 2010 Dec 24.
This paper reviews the evidence on sight word instruction as a method of teaching students with autism and significant cognitive and verbal limitations to read printed words. Nine single-subject studies were rated using Reichow et al.’s (J Autism Dev Disord 38:1311-1319, 2008) evaluative method for identifying evidence-based practice, and studies with at least adequate methodology were analyzed to identify common intervention features. Results yielded evidence in support of a massed trials approach featuring student response to a succession of items, differential positive reinforcement, systematic prompting, and use of visual supports. Across studies, students learned to identify printed words, even those with limited oral language and no prior reading instruction. However, no studies addressed the effects of sight word instruction on broad literacy outcomes.
5. Taylor JL, Seltzer MM. {{Changes in the Mother-Child Relationship During the Transition to Adulthood for Youth with Autism Spectrum Disorders}}. {J Autism Dev Disord}. 2010 Dec 24.
We examined whether exiting high school was associated with changes in the mother-child relationship. Participants were 170 mothers of youth with ASD who were part of our larger longitudinal study and who exited high school during the study; data were collected four times over 7 years. Results indicated improvement in the mother-child relationship while in high school; however, improvement in all indices slowed or stopped after exit. Mothers of youth with ASD without an intellectual disability (ID) and who had more unmet service needs evidenced the least improvement after exit. Our findings provide further evidence that the years after high school exit are a time of increased risk, especially for those with ASD without ID and whose families are under-resourced.
6. Whitehouse AJ, Maybery MT, Hickey M, Sloboda DM. {{Brief Report: Autistic-Like Traits in Childhood Predict Later Age at Menarche in Girls}}. {J Autism Dev Disord}. 2010 Dec 24.
We investigated the relationship between autistic-like traits in early childhood and age at menarche in typically developing girls. Autistic-like symptoms were measured at age 2 years using the Child Behaviour Checklist, and age at menarche (AAM) was determined prospectively using self-report questionnaires at age 8, 10, 14 and 17 years. Girls with ‘high’ autistic-like symptoms at age 2 years demonstrated significantly later AAM (n = 70; M = 13.07 years; SD = 1 year) than girls reported to show ‘typical’ (n = 216; M = 12.72 years; SD = 1.1) or ‘low’ (n = 47; M = 12.66 years; SD = 1.13 years) levels of these behaviors. These data further establish a link between the autism phenotype and later AAM and may provide insights into the etiology of the condition.
