1. {{Extending trust. A report of a potential therapy for some of the social behavior patterns associated with autism highlights the need for a societal dialog to discuss the ethical issues raised by these treatments}}. {Nat Neurosci} (Aug);13(8):905.
2. Cuesta Gomez JL, Casado Munoz R, Lezcano Barbero F. {{[Evaluation of the quality of life in people with Autistic Spectrum Disorder.]}}. {Vertex} (Mar-Apr);21(90):117-125.
The search for quality of life and the trend towards continual improvement has today become a true reference which guides most social organizations. The bodies which offer support to persons with Autistic Spectrum Disorder (referred to hereon as ASD) have not gone untouched by the influence of this concept of quality. The serious difficulties which are associated with this disorder affect the main areas of one ??s personal development: socialisation, communication, comprehension, and adaptation to ones environment, and they require that organizations promote integral networks of resources which guarantee a lifetime of quality services and support. The difficulties of assessing quality of life in persons with ASD from the subjective perspective, make it especially necessary to find valid indicators that help us to favour certain conditions in the ASD person ??s environment. This identified need is justification for the objective put forward: to design an instrument capable of being used to assess the quality of life of persons with ASD, made up of a Guide of Indicators, which organizations and programmes can then use to promote favourable conditions.
3. de Magistris L, Familiari V, Pascotto A, Sapone A, Frolli A, Iardino P, Carteni M, De Rosa M, Francavilla R, Riegler G, Militerni R, Bravaccio C. {{Alterations of the Intestinal Barrier in Patients With Autism Spectrum Disorders and in Their First-degree Relatives}}. {J Pediatr Gastroenterol Nutr} (Jul 28)
OBJECTIVES:: Intestinal permeability (IPT) was investigated in patients with autism as well as in their first-degree relatives to investigate leaky gut hypothesis. Faecal calprotectin (FC) was also measured in patients with autism, either with or without gastrointestinal symptoms, and in their first-degree relatives. PATIENTS AND METHODS:: IPT results, assessed by means of the lactulose/mannitol test, were compared with adult and child controls and with FC values. RESULTS:: A high percentage of abnormal IPT values were found among patients with autism (36.7%) and their relatives (21.2%) compared with normal subjects (4.8%). Patients with autism on a reported gluten-casein-free diet had significantly lower IPT values compared with those who were on an unrestricted diet and controls. Gastrointestinal symptoms were present in 46.7% of children with autism: constipation (45.5%), diarrhoea (34.1%), and others (alternating diarrhoea/constipation, abdominal pain, etc: 15.9%). FC was elevated in 24.4% of patients with autism and in 11.6% of their relatives; it was not, however, correlated with abnormal IPT values. CONCLUSIONS:: The results obtained support the leaky gut hypothesis and indicate that measuring IPT could help to identify a subgroup of patients with autism who could benefit from a gluten-free diet. The IPT alterations found in first-degree relatives suggest the presence of an intestinal (tight-junction linked) hereditary factor in the families of subjects with autism.
4. Hoglund Carlsson L, Gillberg C, Lannero E, Blennow M. {{Autism: Screening toddlers with CHAT in a child health care programme did not improve early identification}}. {Acta Paediatr} (Jul 28)
5. Nemeth D, Janacsek K, Balogh V, Londe Z, Mingesz R, Fazekas M, Jambori S, Danyi I, Vetro A. {{Learning in autism: implicitly superb}}. {PLoS One};5(7):e11731.
BACKGROUND: Although autistic people have shown impairments in various learning and memory tasks, recent studies have reported mixed findings concerning implicit learning in ASD. Implicit skill learning, with its unconscious and statistical properties, underlies not only motor but also cognitive and social skills, and it therefore plays an important role from infancy to old age. METHODOLOGY/PRINCIPAL FINDINGS: We investigated probabilistic implicit sequence learning and its consolidation in Autism Spectrum Disorder (ASD). Three groups of children participated: thirteen with high-functioning ASD, 14 age-matched controls, and 13 IQ-matched controls. All were tested on the Alternating Serial Reaction Time Task (ASRT), making it possible to separate general skill learning from sequence-specific learning. The ASRT task was repeated after 16 hours. We found that control and ASD children showed similar sequence-specific and general skill learning in the learning phase. Consolidation of skill learning and sequence-specific learning were also intact in the ASD compared to the control groups. CONCLUSIONS/SIGNIFICANCE: These results suggest that autistic children can use the effects/results of implicit learning not only for a short period, but also for a longer stretch of time. Using these findings, therapists can design more effective educational and rehabilitation programs.
6. Rotheram-Fuller E, Kasari C, Chamberlain B, Locke J. {{Social involvement of children with autism spectrum disorders in elementary school classrooms}}. {J Child Psychol Psychiatry} (Jul 28)
Background: Children with autism spectrum disorders (ASD) are increasingly included in general education classrooms in an effort to improve their social involvement. Methods: Seventy-nine children with ASD and 79 randomly selected, gender-matched peers (88.6% male) in 75 early (K-1), middle (2nd-3rd), and late (4th-5th) elementary classrooms across 30 schools completed social network surveys examining each child’s reciprocal friendships, peer rejection, acceptance, and social involvement. Results: Across grade levels, peers less frequently reciprocated friendships with children with ASD than students in the matched sample. While children with ASD were not more likely to be rejected by peers, they were less accepted and had fewer reciprocal friendships than matched peers at each grade level. Although 48.1% of children with ASD were involved in the social networks of their classrooms, children with ASD were more likely to be isolated or peripheral to social relationships within the classroom across all grade levels, and this difference is even more dramatic in later elementary grades. Conclusions: In inclusive classrooms, children with ASD are only involved in peers’ social relationships about half of the time, and appear to be even less connected with increasing grade level. Promoting children with ASD’s skills in popular activities to share with peers in early childhood may be a key preventive intervention to protect social relationships in late elementary school grades.
7. Shapiro JR, Bibat G, Hiremath G, Blue ME, Hundalini S, Yablonski T, Kantipuly A, Rohde C, Johnston M, Naidu S. {{Bone Mass in Rett Syndrome: Association with Clinical Parameters and MECP2 Mutations}}. {Pediatr Res} (Jul 23)
Rett Syndrome (RTT) is an X-linked neurodevelopmental disorder caused by mutations in the MECP2 gene. In 49 female RTT children, ages 1.9-17 years, bone mass was assessed and correlated with clinical parameters and mutations involving the MECP2 gene. We also studied 5 adult females, ages 20-33 years, and one male, age 6 years. Lumbar spine bone mineral content (BMC) and bone mineral density (BMD) were correlated with weight, height, body mass index, clinical severity, degree of scoliosis, use of anticonvulsants and ambulatory status. L1-L4 BMD and BMC showed that 48.9% of them had BMD values greater than 2 SD below age-related norms. BMD values were in the osteoporotic range in the 5 adult females with RTT. Eleven percent of the children and adults with RTT experienced fractures. Low bone mass was correlated with marginal significance to clinical severity and ambulation, but not to scoliosis or anticonvusant use. Lowest bone mass occurred in patients with T158M or R270X mutations but without statistical significance. Studies in a murine model of RTT confirmed low bone mass as an inherent component of this syndrome. MECP2 mutations and clinical parameters impact bone mass in RTT but an association with a specific mutation was not demonstrable. ABBREVIATION LIST::
8. Voituron N, Menuet C, Dutschmann M, Hilaire G. {{Physiological definition of upper airway obstructions in mouse model for Rett syndrome}}. {Respir Physiol Neurobiol} (Jul 24)
Rett syndrome is a neuro-developmental disease accompanied by breathing symptoms including breath-hold events, and is caused by mutation of the transcriptional repressor methyl-CpG-binding protein 2 (MeCP2). Males of Mecp2-deficient mice (Mecp2(-/y)) also develop breathing symptoms, with erratic rhythm and life-threatening apnoeas from postnatal day 30 (P30), leading to respiratory distress and premature death at around P60. We investigated the respiratory function of conscious Mecp2(-/y) mice at P40-P60 using conventional whole-body plethysmography, double-chamber plethysmography and chest EMG recordings. Double-chamber plethysmography revealed a persistent increase in respiratory work-load with enlarged chest movements, but no subsequent increase of tidal volume thus revealing a mismatch between airflow and muscle work-load. Apnoeas occurred with cessation of both chest movements and ventilation, but some (40%) developed with persisting rhythmic chest EMG discharges or chest movements without respiratory airflow, suggesting respiratory efforts against obstructed airways. Airway obstruction was maintained even when the respiratory drive increased significantly, triggering large chest EMG discharges and movements. Whole-body plethysmography of Mecp2(-/y) mice revealed significant increases of spirograms, reflecting forced chest movements against partially obstructed airways. The persisting chest EMG discharges and rhythmic chest movements without respiratory airflow suggest that Mecp2 inactivation alters neural circuits controlling the upper airway dilator muscles. The observed breath-hold events in Mecp2(-/y) mice might imply disturbance of neural circuits attached to voluntary control of breathing.
