The Weak Link: Hypotonia in Infancy and Autism Early Identification.

Background: Presenting symptoms and age specific differential diagnosis of Autism Spectrum Disorder (ASD), determine the age of initial assessment and the age of a definite diagnosis. The AAP recommends screening all children for ASD at 18 and 24 months followed by a comprehensive evaluation for children with developmental concerns. More recently it has been recommended that the evaluation should be performed at a younger age, with a diagnosis being made as early as the beginning of the second year of life resulting in earlier intensive intervention. Objective: To assess early developmental milestones in a cohort of children diagnosed with Autism Spectrum Disorder (ASD) in order to find an objective and reliable early marker. We suggest that low muscle tone- hypotonia, is a sign that meets the above criteria of consistency and reliability and may be related to early diagnosis. Methods: We compared age distributions of ASD diagnosis in the presence of hypotonia in a dataset of 5,205 children diagnosed at Keshet Center. One thousand, one hundred eighty-two children (953 males) were diagnosed with ASD and compared to other developmental diagnoses. Within the ASD cohort we further analyzed for gender and pre-maturity differences. Results: In the presence of hypotonia, the mean age for ASD diagnosis was significantly lower (by 1.5 years for males and females) and this effect increased in children born at term as compared to pre-maturity. Conclusions: Hypotonia is a recognizable marker of ASD and may serve as a "red flag" to prompt earlier recognition and neurodevelopmental evaluation toward an autism diagnosis.

Autism risk linked to prematurity is more accentuated in girls.

INTRODUCTION: Prematurity has been identified as a risk factor for Autism Spectrum Disorder (ASD). The link between Autism Spectrum Disorder (ASD) and birth-week has not been strongly evidenced. We evaluated the correlation between the degree of prematurity and the incidence of autism in a cohort of 871 children born prematurely and followed from birth. The cohort was reduced to 416 premature infants born between 2011-2017 who were followed for 2-14 years, and analyzed according to birth week (degree of prematurity), and according to gender. RESULTS: 43 children (10.3%) received a definite diagnosis of ASD. There was a significant correlation between birth week and the risk of ASD, with 22.6% of children diagnosed with ASD when born at 25 weeks, versus 6% of ASD diagnoses at 31 weeks of prematurity. For children born after 32 weeks, the incidence decreased to 8-12.5%. A strong link was found between earlier birth week and increased autism risk; the risk remained elevated during near-term prematurity in boys. A correlation between early birth week and an elevated risk for ASD was seen in all children, but accentuated in females, gradually decreasing as birth week progresses; in males the risk for ASD remains elevated for any birth week. CONCLUSION: A statistically significant increase in rates of autism was found with each additional week of prematurity. Females drove this direct risk related to degree of prematurity, while males had an elevated risk throughout prematurity weeks, even at near-term. We recommend including ASD screening in follow up of infants born prematurely, at all levels of prematurity.

Content Words in Child-Directed Speech of Mothers Toward Children With Autism Spectrum Disorder.

Purpose Our study aimed to analyze the characteristics of content word usage in mother's child-directed speech ( CDS) toward children with autism spectrum disorder compared to mother's CDS toward typically developing children. Method We analyzed the lexical characteristics of CDS of mothers of children with autism (16 dyads) and compared them from a language developmental perspective to mothers of 20 typical children at the same level of expressive language development. Results Results suggest that mothers of children with autism use equal amounts of content words at the same language level, but the content consists of significantly more concrete nouns and active verbs and rarely the use of abstract nouns, stative verbs, adjectives, and adverbs. Conclusion This study suggests that professionals and parents of children with autism should be aware of the importance of varying their language use of content words.

Benefits of medical clowning in the treatment of young children with autism spectrum disorder.

We investigated the contribution of group therapy delivered by a medical clown to young children diagnosed with autism spectrum disorder (ASD). So far, scientific publications regarding medical clowning focus on general health advantages. The current study is the first controlled research examining the use of medical clowning in the therapy for children with ASD. Twenty-four children aged 2-6 years old with ASD enrolled in our special education intensive program were examined before and after group sessions with clown intervention (CI) and other intervention (OI). We tested stereotypic behaviors, verbal expression, play reciprocity, and social smiles. Data was collected during 12 weeks of intervention, and the trajectory of change was evaluated in addition to the pre-/post-intervention.Conclusion: improvement over time in all measures: Significant increase in word production, play reciprocity, and amount of social smiles during CI as compared with OI. We also found a reduction in frequency of stereotypic behaviors during and following CI as compared with before CI. These preliminary results indicate that medical clowning may be beneficial for young children with ASD, since it promotes communication and social reciprocity in a fun and lively interventional setting. What is Known: • Many therapies are used and proven as efficacious interventions for children with ASD. • So far, medical clowning was not tested as an intervention or therapy for ASD. What is New: • Medical clowning sessions with children with ASD elicited enhanced communication during the interventions as compared with other interventions. • Medical clowning sessions contributed to a decrease in frequency of stereotypic movements over time, in children with ASD.

Prolonged Time Lag to Final Diagnosis of Fragile X Syndrome.

OBJECTIVE: To evaluate the diagnostic process in children ultimately diagnosed with fragile X syndrome (FXS), with an emphasis on the time lag between initial presentation and on diagnosis in female vs male children. STUDY DESIGN: Interviews were conducted with 89 families of children with a final diagnosis of FXS and assessment of time intervals between initial presentation and confirmed molecular diagnosis. RESULTS: Screening of 117 patients (25 female patients) from the 89 families revealed that less than 20% of patients obtained a diagnosis within the first year of seeking medical attention. Mean age at the time of initial presentation was 12.3 months in male patients and 23 months in female patients, while definitive diagnosis of FXS was made at a mean of 4 and 9 years, respectively. Presenting symptoms of developmental delays were recognized by 72% of parents, and 84% had another child with FXS before the index case diagnosis. Average age of diagnosis for children with FXS born since 2007 was significantly lower at 31.9 months, compared with 69.5 months for children born before 2007. CONCLUSIONS: Although FXS is a significant and prevalent cause of disability in children, it is underdiagnosed and diagnosed late, especially in female patients. In every male and female patient presenting with developmental delay or autism, FXS should be considered. Dysmorphic physical features may not be present in infancy, and the absence of those features cannot exclude a diagnosis of FXS.