1. Brookman-Frazee L, Baker-Ericzen M, Stahmer A, Mandell D, Haine RA, Hough RL.{{ Involvement of Youths with Autism Spectrum Disorders or Intellectual Disabilities in Multiple Public Service Systems}}. {J Ment Health Res Intellect Disabil};2009 (Jul 1);2(3):201-219.
The objectives of this study were to estimate the prevalence of autism spectrum disorders (ASD) and intellectual disability (ID) among youths active in at least one of five public service systems – mental health [MH], educational services for youth with serious emotional disturbance [SED], child welfare [CW], juvenile justice [JJ], and alcohol and drug services [AD].This study also reports the characteristics and patterns of system involvement among these youths. Results indicate that approximately 12% of a random sample of youths involved in these public service systems had ID or ASD. These disabilities were particularly prevalent in youth in the SED (25%), MH (13%), and CW (13%) systems and were less prevalent in the JJ and AD systems (4% each). Youths with ID or ASD were more likely than other youths to be Caucasian, have a higher socioeconomic status, and be more likely to have externalizing psychiatric and other problems. Of those with ASD or ID, approximately one third were served in more than one service system, with the MH and SED systems most likely to be serving youths with externalizing psychiatric disorders. These findings have important implications for service provision, treatment planning, and workforce development.
2. Grossman RB, Tager-Flusberg H. Reading {{Faces for Information about Words and Emotions in Adolescents with Autism}}. {Res Autism Spectr Disord};2008 (Oct 1);2(4):681-695.
Studies of explicit processing of facial expressions by individuals with autism spectrum disorder (ASD) have found a variety of deficits and preserved abilities compared to their typically developing (TD) peers. However, little attention has been paid to their implicit processing abilities for emotional facial expressions. The question has also been raised whether preferential attention to the mouth region of a speaker’s face by ASD individuals has resulted in a relative lipreading expertise. We present data on implicit processing of pseudo-dynamic facial emotions and visual speech in adolescents with autism. We compared 25 ASD and 25 TD participants on their ability to recreate the sequences of four dynamic emotional facial expressions (happy, sad, disgust, fear) as well as four spoken words (with, bath, thumb, watch) using six still images taken from a video sequence. Typical adolescents were significantly better at recreating the dynamic properties of emotional expressions than those of facial speech, while the autism group showed the reverse accuracy pattern. For Experiment 2 we obscured the eye region of the stimuli and found no significant difference between the 22 adolescents with ASD and 22 TD controls. Fearful faces achieved the highest accuracy results among the emotions in both groups.
3. Noterdaeme M, Wriedt E, Hohne C. {{Asperger’s syndrome and high-functioning autism: language, motor and cognitive profiles}}. {Eur Child Adolesc Psychiatry};2009 (Oct 8)
The objective of this study is to compare the cognitive profile, the motor and language functioning and the psychosocial adaptation of children with Asperger syndrome (AS) and with high-functioning autism (HFA). Subjects were recruited through the department Autism and Developmental Disorders of the Heckscher-Klinikum. To be included in the study, the full-scale-IQ had to be at least 80. Subjects with AS had to have a normal early language development and subjects with HFA a clear delay in language development, as reported by their parents. The sample consisted of 57 children with Asperger syndrome and 55 children with high-functioning autism. The mean age of the children was 10 years. All subjects were examined with a standardised test battery. Children with AS had a higher full-scale-IQ than children with HFA. This was due to a higher verbal-IQ. There were no significant differences in the performance-IQ. At a mean age of 10 years, subjects with AS had better language skills than subjects with HFA, but at least 30% showed clear receptive language problems. Motor problems were present in about 50% of the children with AS and HFA. The level of psychosocial adaptation was clearly reduced, but was comparable for the two groups. The differences in verbal-IQ and language skills between the two groups could be explained through the definition of the syndromes. The presence of language problems in the subjects with AS at age 10, the comparable degree of motor impairment and level of psychosocial adaptation question the validity of the distinction between AS and HFA within the category of pervasive developmental disorders.
4. Weiss LA, Arking DE, Daly MJ, Chakravarti A, Arking DE, Brune CW, West K, O’Connor A, Hilton G, Tomlinson RL, West AB, Cook Jr EH, Chakravarti A, Weiss LA, Green T, Chang SC, Gabriel S, Gates C, Hanson EM, Kirby A, Korn J, Kuruvilla F, McCarroll S, Morrow EM, Neale B, Purcell S, Sasanfar R, Sougnez C, Stevens C, Altshuler D, Gusella J, Santangelo SL, Sklar P, Tanzi R, Daly MJ, Anney R, Bailey AJ, Baird G, Battaglia A, Berney T, Betancur C, Bolte S, Bolton PF, Brian J, Bryson SE, Buxbaum JD, Cabrito I, Cai G, Cantor RM, Cook Jr EH, Coon H, Conroy J, Correia C, Corsello C, Crawford EL, Cuccaro ML, Dawson G, de Jonge M, Devlin B, Duketis E, Ennis S, Estes A, Farrar P, Fombonne E, Freitag CM, Gallagher L, Geschwind DH, Gilbert J, Gill M, Gillberg C, Goldberg J, Green A, Green J, Guter SJ, Haines JL, Hallmayer JF, Hus V, Klauck SM, Korvatska O, Lamb JA, Laskawiec M, Leboyer M, Le Couteur A, Leventhal BL, Liu XQ, Lord C, Lotspeich LJ, Maestrini E, Magalhaes T, Mahoney W, Mantoulan C, McConachie H, McDougle CJ, McMahon WM, Marshall CR, Miller J, Minshew NJ, Monaco AP, Munson J, Nurnberger Jr JI, Oliveira G, Pagnamenta A, Papanikolaou K, Parr JR, Paterson AD, Pericak-Vance MA, Pickles A, Pinto D, Piven J, Posey DJ, Poustka A, Poustka F, Regan R, Reichert J, Renshaw K, Roberts W, Roge B, Rutter ML, Salt J, Schellenberg GD, Scherer SW, Sheffield V, Sutcliffe JS, Szatmari P, Tansey K, Thompson AP, Tsiantis J, Van Engeland H, Vicente AM, Vieland VJ, Volkmar F, Wallace S, Wassink TH, Wijsman EM, Wing K, Wittemeyer K, Yaspan BL, Zwaigenbaum L, Morrow EM, Yoo SY, Sean Hill R, Mukaddes NM, Balkhy S, Gascon G, Al-Saad S, Hashmi A, Ware J, Joseph RM, Leclair E, Partlow JN, Barry B, Walsh CA, Pauls D, Moilanen I, Ebeling H, Mattila ML, Kuusikko S, Jussila K, Ignatius J, Sasanfar R, Tolouei A, Ghadami M, Rostami M, Hosseinipour A, Valujerdi M, Santangelo SL, Andresen K, Winkloski B, Haddad S, Kunkel L, Kohane Z, Tran T, Won Kong S, O’Neil SB, Hanson EM, Hundley R, Holm I, Peters H, Baroni E, Cangialose A, Jackson L, Albers L, Becker R, Bridgemohan C, Friedman S, Munir K, Nazir R, Palfrey J, Schonwald A, Simmons E, Rappaport LA, Gauthier J, Mottron L, Joober R, Fombonne E, Rouleau G, Rehnstrom K, von Wendt L, Peltonen L. {{A genome-wide linkage and association scan reveals novel loci for autism}}. {Nature};2009 (Oct 8);461(7265):802-808.
Although autism is a highly heritable neurodevelopmental disorder, attempts to identify specific susceptibility genes have thus far met with limited success. Genome-wide association studies using half a million or more markers, particularly those with very large sample sizes achieved through meta-analysis, have shown great success in mapping genes for other complex genetic traits. Consequently, we initiated a linkage and association mapping study using half a million genome-wide single nucleotide polymorphisms (SNPs) in a common set of 1,031 multiplex autism families (1,553 affected offspring). We identified regions of suggestive and significant linkage on chromosomes 6q27 and 20p13, respectively. Initial analysis did not yield genome-wide significant associations; however, genotyping of top hits in additional families revealed an SNP on chromosome 5p15 (between SEMA5A and TAS2R1) that was significantly associated with autism (P = 2 x 10(-7)). We also demonstrated that expression of SEMA5A is reduced in brains from autistic patients, further implicating SEMA5A as an autism susceptibility gene. The linkage regions reported here provide targets for rare variation screening whereas the discovery of a single novel association demonstrates the action of common variants.
