1. Addington AM, Gauthier J, Piton A, Hamdan FF, Raymond A, Gogtay N, Miller R, Tossell J, Bakalar J, Germain G, Gochman P, Long R, Rapoport JL, Rouleau GA. {{A novel frameshift mutation in UPF3B identified in brothers affected with childhood onset schizophrenia and autism spectrum disorders}}. {Mol Psychiatry} (Sep 7)
2. Avino TA, Hutsler JJ. {{Abnormal cell patterning at the cortical gray-white matter boundary in autism spectrum disorders}}. {Brain Res} (Sep 2)
Previous research on neuronal spacing and columnar organization indicates the presence of cell patterning alterations within the cerebral cortex of individuals with autism spectrum disorders (ASD). These patterning abnormalities include irregularities at the gray-white matter boundary and may implicate early neurodevelopmental events such as migration in altering cortical organization in ASD. The present study utilized a novel method to quantify the gray-white matter boundary in eight ASD and eight typically developing control subjects. Digital photomicrographs of the gray-white matter boundary were acquired from multiple positions within the superior temporal gyrus (BA 21), dorsolateral frontal lobe (BA 9), and dorsal parietal lobe (BA 7) of each case. A sigmoid curve was fitted to the transition zone between layer VI and underlying white matter (subplate), and the slope of the resulting curve was used as a measure of the spatial extent of the transition zone. For all three cortical regions examined, ASD subjects showed « shallower » sigmoid curves compared to neurotypicals, indicating the presence of an indistinct boundary between cortical layer VI and the underlying white matter. These results may reflect the presence of supernumerary neurons beneath the cortical plate that could be the result of migration deficits or failed apoptosis in the subplate region. Furthermore, these findings raise questions regarding the validity of cortical measures that rely on gray-white matter parcellation, since an indistinct transition zone could lead to a misplaced cortical boundary and errors in both thickness and volume measures.
3. Charles JM. {{Dental Care in Children With Developmental Disabilities: Attention Deficit Disorder, Intellectual Disabilities, and autism}}. {J Dent Child (Chic)};77(2):84-91.
The Federal government reports that 13% of Americans between birth and 18 years of old meet the definition of a child with special health care needs. These children and young adults present unique challenges for both pediatric and general dentists to provide access to the oral health care system-establishing a treatment plan for those with unique medical, behavioral and dental needs and maintaining oral health over the lifetime. The purpose of this article was to describe the characteristics of 3 common developmental disabilities and the challenges these issues present to the oral health care practitioner.
4. Gjevik E, Eldevik S, Fjaeran-Granum T, Sponheim E. {{Kiddie-SADS Reveals High Rates of DSM-IV Disorders in Children and Adolescents with Autism Spectrum Disorders}}. {J Autism Dev Disord} (Sep 8)
Prevalence of current comorbid DSM-IV disorders was assessed in a special school population of children and adolescents with ASD (N = 71, age 6.0-17.9 years), representing all cognitive levels and main ASD subgroups. Symptoms were assessed through parent interview and association to child characteristics was explored. Seventy-two percent was diagnosed with at least one comorbid disorder. Anxiety disorders (41%) and attention deficit/hyperactivity disorder (31%) were most prevalent. Obsessive-compulsive disorder was more common in older children, and oppositional defiant disorder/conduct disorder more prevalent in pervasive developmental disorder, not otherwise specified. Our results show high rates of comorbid DSM-IV disorders and underscore the importance of such evaluation in children ASD. However, diagnostic challenges are present and future research on the diagnostic validity of comorbid psychiatric disorders is needed.
5. Haas RH. {{Autism and mitochondrial disease}}. {Dev Disabil Res Rev} (Jun);16(2):144-153.
Autism spectrum disorder (ASD) as defined by the revised Diagnostic and Statistical Manual of Mental Disorders: DSM IVTR criteria (American Psychiatric Association [2000] Washington, DC: American Psychiatric Publishing) as impairment before the age of 3 in language development and socialization with the development of repetitive behaviors, appears to be increased in incidence and prevalence. Similarly, mitochondrial disorders are increasingly recognized. Although overlap between these disorders is to be expected, accumulating clinical, genetic, and biochemical evidence suggests that mitochondrial dysfunction in ASD is more commonly seen than expected. Some patients with ASD phenotypes clearly have genetic-based primary mitochondrial disease. This review will examine the data linking autism and mitochondria. (c) 2010 Wiley-Liss, Inc. Dev Disabil Res Rev 2010;16:144-153.
6. Karanth P, Shaista S, Srikanth N. {{Efficacy of Communication DEALL-An Indigenous Early Intervention Program for Children with Autism Spectrum Disorders}}. {Indian J Pediatr} (Sep 7)
OBJECTIVE: To establish the efficacy of Communication DEALL, an indigenous early intervention program; in the management of children with autism spectrum disorders (ASD). METHODS: ABA design of pre intervention assessment, intervention and post intervention assessment was utilized, across an 8 month period. The first set of measures covered the assessment of developmental skills in the eight areas of gross motor skills, fine motor skills, activities of daily life skills, receptive language, and expressive language, cognitive, social and emotional skills. The second independent measure was the rating of each child on the Childhood Autism Rating Scale. Parental observations and parental estimation of the child’s progress were also recorded. The study was conducted in the Com DEALL units in Bangalore, including thirty subjects diagnosed with ASD. Main Outcome Measures were developmental skill gains and decrease in behavioral issues. RESULTS: Statistically significant increase in all eight developmental domains and statistically significant decrease in behavioral symptoms as measured by the CARS, were seen. CONCLUSIONS: Thus, the Communication DEALL program shows promise as an effective early intervention program. It also indicates a need to further enhance the stabilization of the pre linguistic skills such as maintenance of eye contact, attention, sitting tolerance and compliance, in the program.
7. Okabe Y, Kusaga A, Takahashi T, Mitsumasu C, Murai Y, Tanaka E, Higashi H, Matsuishi T, Kosai KI. {{Neural development of methyl-CpG-binding protein 2 null embryonic stem cells: A system for studying Rett syndrome}}. {Brain Res} (Sep 2)
Mutations in methyl-CpG-binding protein 2 (MeCP2) gene cause the neurodevelopmental disorder Rett syndrome (RTT). Here, we describe a new experimental system that efficiently elucidates the role of MeCP2 in neural development. MeCP2-null and control ES cells were generated by adenoviral conditional targeting and examined for maintenance of the undifferentiated ES cell state, neurogenesis, and gliogenesis during in vitro differentiation. In addition, dopamine release and electrophysiological features of neurons differentiated from these ES cells were examined. Loss of MeCP2 did not affect undifferentiated ES cell colony morphology and growth, or the timing or efficiency of neural stem cell differentiation into Nestin-, TuJ- or TH-positive neurons. In contrast, gliogenesis was drastically accelerated by MeCP2 deficiency. Dopamine production and release in response to a depolarizing stimulus in MeCP2-null ES-derived dopaminergic neurons was intact. However, MeCP2-null differentiated neurons showed significantly smaller voltage-dependent Na(+) currents and A-type K(+) currents, suggesting incomplete maturation. Thus, MeCP2 is not essential for maintenance of the undifferentiated ES cell state, neurogenesis, or dopaminergic function; rather, it is principally involved in inhibiting gliogenesis. Altered neuronal maturity may indirectly result from abnormal glial development and may underlie the pathogenesis of RTT. These data contribute to a better understanding of the developmental roles of MeCP2 and the pathogenesis of RTT.
8. Pierce K, Conant D, Hazin R, Stoner R, Desmond J. {{Preference for Geometric Patterns Early in Life As a Risk Factor for Autism}}. {Arch Gen Psychiatry} (Sep 6)
CONTEXT: Early identification efforts are essential for the early treatment of the symptoms of autism but can only occur if robust risk factors are found. Children with autism often engage in repetitive behaviors and anecdotally prefer to visually examine geometric repetition, such as the moving blade of a fan or the spinning of a car wheel. The extent to which a preference for looking at geometric repetition is an early risk factor for autism has yet to be examined. OBJECTIVES: To determine if toddlers with an autism spectrum disorder (ASD) aged 14 to 42 months prefer to visually examine dynamic geometric images more than social images and to determine if visual fixation patterns can correctly classify a toddler as having an ASD. DESIGN: Toddlers were presented with a 1-minute movie depicting moving geometric patterns on 1 side of a video monitor and children in high action, such as dancing or doing yoga, on the other. Using this preferential looking paradigm, total fixation duration and the number of saccades within each movie type were examined using eye tracking technology. SETTING: University of California, San Diego Autism Center of Excellence. PARTICIPANTS: One hundred ten toddlers participated in final analyses (37 with an ASD, 22 with developmental delay, and 51 typical developing toddlers). Main Outcome Measure Total fixation time within the geometric patterns or social images and the number of saccades were compared between diagnostic groups. RESULTS: Overall, toddlers with an ASD as young as 14 months spent significantly more time fixating on dynamic geometric images than other diagnostic groups. If a toddler spent more than 69% of his or her time fixating on geometric patterns, then the positive predictive value for accurately classifying that toddler as having an ASD was 100%. CONCLUSION: A preference for geometric patterns early in life may be a novel and easily detectable early signature of infants and toddlers at risk for autism.
9. Sevik AE, Cengel Kultur E, Demirel H, Karli Oguz K, Akca O, Lay Ergun E, Demir B. {{[Asperger syndrome with highly exceptional calendar memory: a case report.]}}. {Turk Psikiyatri Derg} (Fall);21(3):249-256.
Some patients with pervasive developmental disorders develop unusual talents, which are characterized as savant syndrome. Herein we present neuropsychological examination and brain imaging (fMRI and brain SPECT) findings of an 18-year-old male with Asperger syndrome and highly unusual calendar memory. Neuropsychological evaluation of the case indicated mild attention, memory, and problem solving deficits, and severe executive function deficits that included conceptualization, category formation, and abstraction. Functional MRI findings showed activation above the baseline level (P < 0.05) in the bilateral inferior parietal lobule, precuneus, superior and middle frontal gyri, and medial frontal cortex. Brain SPECT findings, in comparison to rest-SPECT findings, showed that there was hypoperfusion in some brain regions, including the right frontal cortex and right parietal cortex. Baseline blood perfusion in the left frontal cortex was also observed, as well as hypoperfusion in the right parietal-occipital cortex and in the right basal ganglion (compared to the left side). The results of the present study and further research will contribute to our understanding of calendar memory and savant syndrome.
