Infants later diagnosed with autism have lower canonical babbling ratios in the first year of life.

BACKGROUND: Canonical babbling-producing syllables with a mature consonant, full vowel, and smooth transition-is an important developmental milestone that typically occurs in the first year of life. Some studies indicate delayed or reduced canonical babbling in infants at high familial likelihood for autism spectrum disorder (ASD) or who later receive an ASD diagnosis, but evidence is mixed. More refined characterization of babbling in the first year of life in infants with high likelihood for ASD is needed. METHODS: Vocalizations produced at 6 and 12 months by infants (n = 267) taking part in a longitudinal study were coded for canonical and non-canonical syllables. Infants were categorized as low familial likelihood (LL), high familial likelihood diagnosed with ASD at 24 months (HL-ASD) or not diagnosed (HL-Neg). Language delay was assessed based on 24-month expressive and receptive language scores. Canonical babble ratio (CBR) was calculated by dividing the number of canonical syllables by the number of total syllables. Generalized linear (mixed) models were used to assess the relationship between group membership and CBR, controlling for site, sex, and maternal education. Logistic regression was used to assess whether canonical babbling ratios at 6 and 12 months predict 24-month diagnostic outcome. RESULTS: No diagnostic group differences in CBR were detected at 6 months, but HL-ASD infants produced significantly lower CBR than both the HL-Neg and LL groups at 12 months. HL-Neg infants with language delay also showed reduced CBR at 12 months. Neither 6- nor 12-month CBR was significant predictors of 24-month diagnostic outcome (ASD versus no ASD) in logistic regression. LIMITATIONS: Small numbers of vocalizations produced by infants at 6 months may limit the reliability of CBR estimates. It is not known if results generalize to infants who are not at high familial likelihood, or infants from more diverse racial and socioeconomic backgrounds. CONCLUSIONS: Lower canonical babbling ratios are apparent by the end of the first year of life in ASD regardless of later language delay, but are also observed for infants with later language delay without ASD. Canonical babbling may lack specificity as an early marker when used on its own.

Characterizing Social Functioning in School-Age Children with Sensory Processing Abnormalities.

Children with sensory abnormalities (SAs) have a variety of social problems resulting in poorer social functioning than children with typical development (TD). We describe the relationship between SAs and social functioning in school-age children with SAs, children with TD and a clinical comparison sample of children with autism spectrum disorder (ASD). Children with SAs demonstrated impaired social functioning on standardized measures. Children with SAs demonstrated worse social functioning than children with TD and equivalent social functioning to children with ASD. Increased SAs were associated with poorer social functioning across all groups. The results suggest that children with SAs experience clinically significant problems with social functioning and future research is needed to develop interventions to support social functioning in this population.

Femoroacetabular Impingement in Pediatric Patients.

Subacute, nontraumatic hip pain is often a diagnostic challenge. Femoroacetabular impingement (FAI) is a common cause of atraumatic hip pain that is poorly understood. FAI is a result of abnormal morphologic changes in either the femoral head or the acetabulum. FAI is more prevalent in people who perform activities requiring repetitive hip flexion, but it remains common in the general population. Evaluation begins with physical examination maneuvers to rule out additional hip pathology and provocation tests to reproduce hip pain. Diagnosis is often made by radiography or magnetic resonance imaging. Initial treatment is generally more conservative, featuring activity modification and physical therapy, whereas more aggressive treatment requires operative management.

Enhancing Low-Intensity Coaching in Parent Implemented Early Start Denver Model Intervention for Early Autism: A Randomized Comparison Treatment Trial.

Short-term low intensity parent implemented intervention studies for toddlers with autism spectrum disorder (ASD) have found it difficult to demonstrate significantly improved developmental scores or autism severity compared to community treatment. We conducted a randomized comparative intent-to-treat study of a parent implemented intervention to (1) test the effects of an enhanced version on parent and child learning, and (2) evaluate the sensitivity to change of proximal versus distal measures of child behavior. We randomized 45 children with ASD, 12-30 months of age, into one of two versions of parent-implemented Early Start Denver Model (P-ESDM), the basic model, in which we delivered 1.5 h of clinic-based parent coaching weekly, and an enhanced version that contained three additions: motivational interviewing, multimodal learning tools, and a weekly 1.5-h home visit. We delivered the intervention for 12 weeks and measured child and parent change frequently in multiple settings. We found a time-by-group interaction: parents in the enhanced group demonstrated significantly greater gains in interaction skills than did parents in the non-enhanced group. Both interventions were associated with significant developmental acceleration; however, child outcomes did not differ by group. We found a significant relationship between degree of change in parental interaction skill and rate of children's improvement on our proximal measure. Parents in both groups reported satisfaction with the intervention. These findings suggest that parent skills improved more in the enhanced group than the comparison group. Children in the two groups showed similar improvements. Rate of individual parent learning was associated with greater individual child progress on a measure quite proximal to the treatment, though not on standardized assessments.

Language delay aggregates in toddler siblings of children with autism spectrum disorder.

BACKGROUND: Language delay is extremely common in children with autism spectrum disorder (ASD), yet it is unclear whether measurable variation in early language is associated with genetic liability for ASD. Assessment of language development in unaffected siblings of children with ASD can inform whether decreased early language ability aggregates with inherited risk for ASD and serves as an ASD endophenotype. METHODS: We implemented two approaches: (1) a meta-analysis of studies comparing language delay, a categorical indicator of language function, and language scores, a continuous metric, in unaffected toddlers at high and low familial risk for ASD, and (2) a parallel analysis of 350 unaffected 24-month-olds in the Infant Brain Imaging Study (IBIS), a prospective study of infants at high and low familial risk for ASD. An advantage of the former was its detection of group differences from pooled data across unique samples; an advantage of the latter was its sensitivity in quantifying early manifestations of language delay while accounting for covariates within a single large sample. RESULTS: Meta-analysis showed that high-risk siblings without ASD (HR-noASD) were three to four times more likely to exhibit language delay versus low-risk siblings without ASD (LR-noASD) and had lower mean receptive and expressive language scores. Analyses of IBIS data corroborated that language delay, specifically receptive language delay, was more frequent in the HR-noASD (n = 235) versus LR-noASD group (n = 115). IBIS language scores were continuously and unimodally distributed, with a pathological shift towards decreased language function in HR-noASD siblings. The elevated inherited risk for ASD was associated with lower receptive and expressive language scores when controlling for sociodemographic factors. For receptive but not expressive language, the effect of risk group remained significant even when controlling for nonverbal cognition. CONCLUSIONS: Greater frequency of language delay and a lower distribution of language scores in high-risk, unaffected toddler-aged siblings support decreased early language ability as an endophenotype for ASD, with a more pronounced effect for receptive versus expressive language. Further characterization of language development is warranted to refine genetic investigations of ASD and to elucidate factors influencing the progression of core autistic traits and related symptoms.

The effects of resistance training, overtraining, and early specialization on youth athlete injury and development.

INTRODUCTION: In 2014, 60 million youth ages 6-18 participated in some form of generalized athletics. Around 3.5 million children are injured annually participating in organized sport or recreational activities. While sound physical education can decrease the burden of youth sports injuries, the median annual physical education budget of $ 764 for USA elementary, middle, and high schools may not allow enough flexibility to apply evidenced-based guidelines. EVIDENCE ACQUISITION: The topics were selected after a careful review of the 2016 National Strength and Conditioning Association Position Statement on Long-Term Athletic Development. Articles used to summarize the topics were located by using and cross-referencing sources from this statement. PubMed searches were also conducted using the key words "youth sports injuries," "early sports specialization," "training and maturation," "training versus developmental stage," and "long-term athletic development." EVIDENCE SYNTHESIS: Youth resistance training has been shown to decrease not only the risk of injury, but also of the development of diabetes and metabolic syndrome. Adequate recovery time also decreases injury risk, and resources such as the RESTQ-Sport are available to help coaches identify stress-recovery imbalances, which can be detected two months before an athlete becomes overreached. Through early detection of overtraining, a significant proportion of overuse injuries can be prevented. Early specialization causes fewer muscle groups to be worked and increased repetition, theoretically increasing the risk of injury and early sport dropout. Prior to puberty, increased neuronal activation and adaptation can be achieved through focusing on agility, balance and coordination, thus taking advantage of increased synaptoplasticity. In these early years, neuronal stimulation is more important than muscle hypertrophy, which plays a greater role in athletic development after puberty. CONCLUSIONS: A substantial proportion of youth injuries are preventable. Coaches and physical educators who correctly understand and apply the principles outlined in this review can help youth under their supervision engage in healthy training for sport.

Competitive bass anglers: a new concern in sports medicine.

OBJECTIVE: Competitive bass angling involves sport fishing against other anglers while targeting a species of fish known as the black basses. Due to the rapidly growing popularity of high school competitive bass angling in Alabama and the nature of the casting motion similar to that of overhead athletes, we sought to examine the prevalence of sports type injuries in this population. METHODS: In spring 2016, an anonymous survey was distributed across two large scale competitive high school fishing tournaments, allowing for a broad sampling of anglers throughout the state of Alabama. Survey items included demographic information, relevant past medical history, and various pains associated with the shoulder, elbow and wrist. Results were recorded and analyzed electronically using Microsoft Excel and IBM SPSS statistical software. RESULTS: A total of 257 surveys were recorded. The response rate was 61%. The mean age of participating anglers was 15 ± 1.61 years. The majority (42%) of anglers fished year round. On average, anglers casted nearly 1,000 more times while competing versus fishing recreationally. Approximately 15% of anglers experienced shoulder, elbow, and wrist pain. The most common factors associated with pain included higher tournament cast counts, number of competitive years, number of tournaments/year, number of tournaments, and use of light weight lures. CONCLUSION: A large portion of high school competitive anglers experience upper extremity pain. Knowledge of angling factors associated with pain allow for the creation of a modifiable routine to help reduce pain in affected anglers and prevent pain in healthy anglers.

Increased Extra-axial Cerebrospinal Fluid in High-Risk Infants Who Later Develop Autism.

BACKGROUND: We previously reported that infants who developed autism spectrum disorder (ASD) had increased cerebrospinal fluid (CSF) in the subarachnoid space (i.e., extra-axial CSF) from 6 to 24 months of age. We attempted to confirm and extend this finding in a larger independent sample. METHODS: A longitudinal magnetic resonance imaging study of infants at risk for ASD was carried out on 343 infants, who underwent neuroimaging at 6, 12, and 24 months. Of these infants, 221 were at high risk for ASD because of an older sibling with ASD, and 122 were at low risk with no family history of ASD. A total of 47 infants were diagnosed with ASD at 24 months and were compared with 174 high-risk and 122 low-risk infants without ASD. RESULTS: Infants who developed ASD had significantly greater extra-axial CSF volume at 6 months compared with both comparison groups without ASD (18% greater than high-risk infants without ASD; Cohen's d = 0.54). Extra-axial CSF volume remained elevated through 24 months (d = 0.46). Infants with more severe autism symptoms had an even greater volume of extra-axial CSF from 6 to 24 months (24% greater at 6 months, d = 0.70; 15% greater at 24 months, d = 0.70). Extra-axial CSF volume at 6 months predicted which high-risk infants would be diagnosed with ASD at 24 months with an overall accuracy of 69% and corresponding 66% sensitivity and 68% specificity, which was fully cross-validated in a separate sample. CONCLUSIONS: This study confirms and extends previous findings that increased extra-axial CSF is detectable at 6 months in high-risk infants who develop ASD. Future studies will address whether this anomaly is a contributing factor to the etiology of ASD or an early risk marker for ASD.

Overuse Injuries of the Pediatric and Adolescent Throwing Athlete.

In the hypercompetitive environment of year round youth baseball, arm pain is commonplace. Although much research has been done about injuries in the overhead throwing athlete, the emphasis has been on the more elite levels, where athletes have reached full development. The anatomy of the skeletally immature athlete, including open physeal plates and increased tissue laxity, raises unique issues in the presentation and treatment of repetitive throwing injuries of the elbow and shoulder. With a focus on "little leaguers," this discussion evaluates five of the most common elbow and shoulder injuries-Little Leaguer's elbow, ulnar collateral ligament sprain or tear, osteochondritis dissecans/Panner's disease, Little Leaguer's shoulder, and multidirectional instability. In the developmentally distinct pediatric athlete, pathogenesis, diagnosis, and treatment may differ from that established for adults. Offering early diagnosis and treatment appropriate to a child's level of development will enable youth to not only continue to play sports but to also maintain full functionality as active adults.

Reduced engagement with social stimuli in 6-month-old infants with later autism spectrum disorder: a longitudinal prospective study of infants at high familial risk.

BACKGROUND: Autism spectrum disorder (ASD) is a neurodevelopmental disorder that affects more than 1 % of the population and close to 20 % of prospectively studied infants with an older sibling with ASD. Although significant progress has been made in characterizing the emergence of behavioral symptoms of ASD, far less is known about the underlying disruptions to early learning. Recent models suggest that core aspects of the causal path to ASD may only be apparent in early infancy. Here, we investigated social attention in 6- and 12-month-old infants who did and did not meet criteria for ASD at 24 months using both cognitive and electrophysiological methods. We hypothesized that a reduction in attention engagement to faces would be associated with later ASD. METHODS: In a prospective longitudinal design, we used measures of both visual attention (habituation) and brain function (event-related potentials to faces and objects) at 6 and 12 months and investigated the relationship to ASD outcome at 24 months. RESULTS: High-risk infants who met criteria for ASD at 24 months showed shorter epochs of visual attention, faster but less prolonged neural activation to faces, and delayed sensitization responses (increases in looking) to faces at 6 months; these differences were less apparent at 12 months. These findings are consistent with disrupted engagement of sustained attention to social stimuli. CONCLUSIONS: These findings suggest that there may be fundamental early disruptions to attention engagement that may have cascading consequences for later social functioning.

Arthroscopic treatment of tibial spine malunion with resorbable screws.

Anterior tibial spine fractures are rare and were thought to occur mainly in children; however, recent literature indicates that the incidence in adults is much greater than previously thought. Because the tibial spine is an attachment point for the anterior cruciate ligament (ACL), an avulsion may produce ACL laxity, predisposing to further issues. We report the case of an 11-year-old boy with a tibial spine fracture that failed conservative management. He developed a malunion with impingement anteriorly of the tibial spine on the notch and residual instability of the ACL. In this report, we present a novel approach for arthroscopic reduction of a tibial spine fracture using 8 resorbable poly-L-lactic/polyglycolic acid nails.

Network inefficiencies in autism spectrum disorder at 24 months.

Autism spectrum disorder (ASD) is a developmental disorder defined by behavioral symptoms that emerge during the first years of life. Associated with these symptoms are differences in the structure of a wide array of brain regions, and in the connectivity between these regions. However, the use of cohorts with large age variability and participants past the generally recognized age of onset of the defining behaviors means that many of the reported abnormalities may be a result of cascade effects of developmentally earlier deviations. This study assessed differences in connectivity in ASD at the age at which the defining behaviors first become clear. There were 113 24-month-old participants at high risk for ASD, 31 of whom were classified as ASD, and 23 typically developing 24-month-old participants at low risk for ASD. Utilizing diffusion data to obtain measures of the length and strength of connections between anatomical regions, we performed an analysis of network efficiency. Our results showed significantly decreased local and global efficiency over temporal, parietal and occipital lobes in high-risk infants classified as ASD, relative to both low- and high-risk infants not classified as ASD. The frontal lobes showed only a reduction in global efficiency in Broca's area. In addition, these same regions showed an inverse relation between efficiency and symptom severity across the high-risk infants. The results suggest delay or deficits in infants with ASD in the optimization of both local and global aspects of network structure in regions involved in processing auditory and visual stimuli, language and nonlinguistic social stimuli.

Rule learning in autism: the role of reward type and social context.

Learning abstract rules is central to social and cognitive development. Across two experiments, we used Delayed Non-Matching to Sample tasks to characterize the longitudinal development and nature of rule-learning impairments in children with Autism Spectrum Disorder (ASD). Results showed that children with ASD consistently experienced more difficulty learning an abstract rule from a discrete physical reward than children with DD. Rule learning was facilitated by the provision of more concrete reinforcement, suggesting an underlying difficulty in forming conceptual connections. Learning abstract rules about social stimuli remained challenging through late childhood, indicating the importance of testing executive functions in both social and non-social contexts.

Spine problems in young athletes.

As the number of young people involved in sports activities increases, acute and chronic back pain has become more common. With a careful medical history and physical examination, along with the judicious use of imaging modalities, the causes of back pain can be correctly diagnosed and treated so that young athletes can quickly return to sports participation. Although most back pain in these young patients is muscular in origin, findings that should trigger increased concern include night pain, marked hamstring tightness, pain with lumbar spine hyperextension, or any neurologic finding. When recently developed vague back pain is present, a delay in radiographic imaging is warranted. With new back pain after trauma, AP and lateral radiographs of the symptomatic spinal area are indicated. CT, bone scans, and MRI should be reserved for special circumstances. Spondylolysis is the most common bony cause of back pain in young athletes. Spondylolysis can be treated with activity limitation, a specific exercise program, a thoracolumbar orthosis, and/or surgery. Treatment should be based on the amount of pain as well as the desire of the young athlete to continue in the sports activity that caused the pain. Other significant causes of back pain that require more extensive treatment in these young athletes include spondylolisthesis, lumbar disk disorders, and sacral stress fractures. It is anticipated that nearly all young athletes can return to sports activity after successful treatment. Even if surgical treatment is needed, return to all sports is expected, with the occasional exception of collision sports.

Mutations in the TSGA14 gene in families with autism spectrum disorders.

Linkage to 7q has been the most robust genetic finding in familial autism. A previous scan of multiplex families with autism spectrum disorders found a linkage signal of genome-wide significance at D7S530 on 7q32. We searched a candidate imprinted region at this location for genetic variants in families with positive linkage scores. Using exon resequencing, we identified three rare potentially pathogenic variants in the TSGA14 gene, which encodes a centrosomal protein. Two variants were missense mutations (c.664C>G; p.P206A and c.766T>G; p.C240G) that changed conserved residues in the same protein domain; the third variant (c.192+5G>A) altered splicing, which resulted in a protein with an internal deletion of 16 residues and a G33D substitution. These rare TSGA14 variants are enriched in the affected subjects (6/348 patients versus 2/670 controls, Fisher's exact two tailed P = 0.022). This is the first report of a possible link of a gene with a centrosomal function with familial autism.

Rabies control in rural Africa: evaluating strategies for effective domestic dog vaccination.

Effective vaccination campaigns need to reach a sufficient percentage of the population to eliminate disease and prevent future outbreaks, which for rabies is predicted to be 70%, at a cost that is economically and logistically sustainable. Domestic dog rabies has been increasing across most of sub-Saharan Africa indicating that dog vaccination programmes to date have been inadequate. We compare the effectiveness of a variety of dog vaccination strategies in terms of their cost and coverage in different community settings in rural Tanzania. Central-point (CP) vaccination was extremely effective in agro-pastoralist communities achieving a high coverage (>80%) at a low cost (US$5/dog) and inadequate (<20% coverage); combined approaches using CP and either house-to-house vaccination or trained community-based animal health workers were most effective with coverage exceeding 70%, although costs were still high (>US$6 and >US$4/dog, respectively). No single vaccination strategy is likely to be effective in all populations and therefore alternative approaches must be deployed under different settings. CP vaccination is cost-effective and efficient for the majority of dog populations in rural Tanzania and potentially elsewhere in sub-Saharan Africa, whereas a combination strategy is necessary in remote pastoralist communities. These results suggest that rabies control is logistically feasible across most of the developing world and that the annual costs of effective vaccination campaigns in Tanzania are likely to be affordable.

Neuropeptide Y (NPY) Y2 receptors of rabbit kidney cortex are largely dimeric.

The neuropeptide Y (NPY) Y2 receptors and the pancreatic polypeptide Y4 receptors from rabbit kidney cortex are isolated largely as approximately 180 kDa complexes constituted of one receptor dimer and one G-protein heterotrimer, similar to NPY receptors expressed in the Chinese hamster ovary (CHO) cells. As expected, kidney and CHO cell Y2 dimers are converted into monomers by increasing concentrations of a selective agonist. Prevalence of dimeric Y2 receptors in the kidney could be related to low plasma levels of Y2 agonists, and possibly also to a relatively low concentration of Gi alpha subunits.

The neuropeptide Y (NPY) Y2 receptors are largely dimeric in the kidney, but monomeric in the forebrain.

The neuropeptide Y(NPY) Y2 receptors are detected largely as dimers in the clonal expressions in CHO cells and in particulates from rabbit kidney cortex. However, in two areas of the forebrain (rat or rabbit piriform cortex and hypothalamus), these receptors are found mainly as monomers. Evidence is presented that this difference relates to large levels of G proteins containing the Gi alpha -subunit in the forebrain areas. The predominant monomeric status of these Y2 receptors should also be physiologically linked to large synaptic inputs of the agonist NPY. The rabbit kidney and the human CHO cell-expressed Y2 dimers are converted by agonists to monomers in vitro at a similar rate in the presence of divalent cations.