1. Bilello G. {{[Functional and occlusion rehabilitation in a patient with Rett syndrome: a case report]}}. Recenti Prog Med;2009 (Jun);100(6):304-306.Riequilibrio occluso-funzionale in un soggetto con sindrome di Rett: descrizione di un caso.
Rett syndrome is a severe neurodevelopmental disease caused by mutations in the X-linked gene encoding for the methyl-CpG-binding protein MeCP2. The aim of this paper is to show the orthodontic treatment of a little girls affected by Rett syndrome.
2. Gulsrud AC, Jahromi LB, Kasari C. {{The Co-Regulation of Emotions Between Mothers and their Children with Autism}}. {J Autism Dev Disord};2009 (Aug 28)
Thirty-four toddlers with autism and their mothers participated in an early intervention targeting joint engagement. Across the 24 intervention sessions, any significant distress episode in the child was coded for emotion regulation outcomes including child negativity, child emotion self-regulation, and mother emotion co-regulation. Results revealed that emotion regulation strategies by both mother and child were employed during distress episodes. An effect of intervention was found such that children decreased their expression of negativity across the intervention and mothers increased their emotional and motivational scaffolding. The results of this study indicate a positive effect of an intervention targeting joint engagement on emotion co-regulation outcomes.
3. Johansson M, Gillberg C, Rastam M. {{Autism spectrum conditions in individuals with Mobius sequence, CHARGE syndrome and oculo-auriculo-vertebral spectrum: Diagnostic aspects}}. {Res Dev Disabil};2009 (Aug 24)
As part of multidisciplinary surveys of three Behavioural Phenotype Conditions (BPCs); Mobius sequence (Mobius), CHARGE syndrome (CHARGE) and oculo-auriculo-vertebral spectrum (OAV), autism spectrum conditions (ASCs) was diagnosed in 45%, 68% and 42% of the individuals, respectively. Diagnostic difficulties due to additional dysfunctions such as mental retardation (MR), impaired vision, reduced hearing and cranial nerve dysfunction, were experienced in all three BPC groups. The applicability of current autism diagnostic instruments, such as the Autism Diagnostic Interview-Revised (ADI-R), the Childhood Autism Rating Scale (CARS) and the Autistic Behaviour Checklist (ABC), in individuals with ASCs and Mobius/CHARGE/OAV was analysed. Use of an extensive battery of diagnostic instruments, including both observational schedules and parent interviews, and, if possible, independent judgements from two clinicians, is essential in the diagnostics of ASCs in these individuals. Further, in individuals who are deaf and blind the applicability of current autism diagnostic instruments is highly questionable.
4. Kawamura Y, Takahashi O, Ishii T. {{[Cumulative incidence of pervasive developmental disorders–re-evaluation following the establishment of a support system at Toyota City]}}. {Seishin Shinkeigaku Zasshi};2009;111(5):479-485.
5. Moss J, Howlin P. {{Autism spectrum disorders in genetic syndromes: implications for diagnosis, intervention and understanding the wider autism spectrum disorder population}}. {J Intellect Disabil Res};2009 (Aug 25)
Abstract Background An emerging literature on behavioural phenotypes has highlighted apparent associations between autism spectrum disorders (ASDs) or ASD-related phenomenology and a number of different genetically determined syndromes. Method A systematic review of the current literature regarding the association with ASD and ASD characteristics was conducted in the following syndrome groups: Fragile X, Rett, Tuberous Sclerosis Complex, Down, Angelman, CHARGE and Phenylketonuria. Specific consideration was given to the role of intellectual disability in assessing the association between ASD and these syndrome groups. Results The review highlights that while formal diagnostic assessments may indicate an association between ASD and specific syndrome groups, detailed investigation has revealed subtle but qualitative differences in the presentation of ASD-like phenomenology in particular syndrome groups. The degree of ID of the individual clearly has a role to play with regard to the development and presentation of ASD-like characteristics, and caution should be taken when assessing ASD symptomatology in genetically determined syndromes associated with severe ID. However, degree of ID cannot solely account for the heightened prevalence of ASD characteristics in some specific syndrome groups. Conclusions There is a need for caution in interpreting the significance of superficial similarities between ASD and the behavioural phenotypes of certain genetically determined syndromes. However, recognition of ASD-like characteristics (even where a true diagnosis of ASD may not be relevant) in individuals with genetic syndromes is crucial in ensuring that individuals receive appropriate behavioural management and educational placement. Further research in this field requires fine-grained investigation of behavioural phenomenology within individual syndrome groups.
6. Rastegar M, Hotta A, Pasceri P, Makarem M, Cheung AY, Elliott S, Park KJ, Adachi M, Jones FS, Clarke ID, Dirks P, Ellis J. {{MECP2 isoform-specific vectors with regulated expression for Rett syndrome gene therapy}}. {PLoS One};2009;4(8):e6810.
BACKGROUND: Rett Syndrome (RTT) is an Autism Spectrum Disorder and the leading cause of mental retardation in females. RTT is caused by mutations in the Methyl CpG-Binding Protein-2 (MECP2) gene and has no treatment. Our objective is to develop viral vectors for MECP2 gene transfer into Neural Stem Cells (NSC) and neurons suitable for gene therapy of Rett Syndrome. METHODOLOGY/PRINCIPAL FINDINGS: We generated self-inactivating (SIN) retroviral vectors with the ubiquitous EF1alpha promoter avoiding known silencer elements to escape stem-cell-specific viral silencing. High efficiency NSC infection resulted in long-term EGFP expression in transduced NSC and after differentiation into neurons. Infection with Myc-tagged MECP2-isoform-specific (E1 and E2) vectors directed MeCP2 to heterochromatin of transduced NSC and neurons. In contrast, vectors with an internal mouse Mecp2 promoter (MeP) directed restricted expression only in neurons and glia and not NSC, recapitulating the endogenous expression pattern required to avoid detrimental consequences of MECP2 ectopic expression. In differentiated NSC from adult heterozygous Mecp2(tm1.1Bird)+/- female mice, 48% of neurons expressed endogenous MeCP2 due to random inactivation of the X-linked Mecp2 gene. Retroviral MECP2 transduction with EF1alpha and MeP vectors rescued expression in 95-100% of neurons resulting in increased dendrite branching function in vitro. Insulated MECP2 isoform-specific lentiviral vectors show long-term expression in NSC and their differentiated neuronal progeny, and directly infect dissociated murine cortical neurons with high efficiency. CONCLUSIONS/SIGNIFICANCE: MeP vectors recapitulate the endogenous expression pattern of MeCP2 in neurons and glia. They have utility to study MeCP2 isoform-specific functions in vitro, and are effective gene therapy vectors for rescuing dendritic maturation of neurons in an ex vivo model of RTT.
7. Silva LM, Schalock M, Ayres R, Bunse C, Budden S. {{Qigong massage treatment for sensory and self-regulation problems in young children with autism: a randomized controlled trial}}. {Am J Occup Ther};2009 (Jul-Aug);63(4):423-432.
Autism is commonly associated with sensory and self-regulatory disturbances. This article presents a randomized controlled study evaluating the effect of a 5-month intervention directed toward improving sensory impairment, digestion, and sleep in 46 children with autism < age 6. The intervention, Qigong Sensory Training (QST), is a qigong massage intervention based in Chinese medicine. It is two-pronged: Trainers work with children directly 20 times over 5 months, and parents give the massage daily to their children. Improvement was evaluated in two settings–preschool and home–by teachers (blind to group) and parents. Teacher evaluations showed that treated children had significant classroom improvement of social and language skills and reduction in autistic behavior compared with wait-list control participants. These findings were confirmed by parent data, indicating that the gains had generalized across contexts. A model and supporting data for understanding and treating sensory and self-regulation problems in autism is presented.
