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CLINICAL TRIALS
Independent Studies of Dextromethorphan and of Donepezil Hydrochloride for Rett Syndrome
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Nutritional Aspects of Rett Syndrome
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Study of Cardiac and Paroxysmal Abnormalities in Rett Syndrome
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Rett Syndrome
 
LATEST FEATURES
April 24, 2013
Developmental Psychopathology Comes of Age
Traumatic brain injury, criminal responsibility, traumatic stress, and autism spectrum/neurodevelopmental disorders slideshow More »
April 16, 2009
Cormorbidity: Diagnosing Comorbid Psychiatric Conditions
Autism spectrum disorders (ASDs) are a group of 5 neuro developmental conditions (autism, Asperger syndrome, pervasive developmental disorder not... More »
March 11, 2009
Fishing for Genetic Links in Autism
In my January column (“Fishing Expeditions and Autism: A Big Catch for Genetic Research?” Psychiatric Times, January 2009, page 12), I described the... More »
February 9, 2007
Autism Disorder Reversed in Mice
EDINBURGH, Scotland -- Rett Syndrome -- a relatively rare autism spectrum disorder -- may be reversible, if experiments in mice are borne out in... More »
February 1, 2007
New Act by Congress Gives Boost to Autism Research
New Act by Congress Gives Boost to Autism Research More »
May 26, 2006
Autism: The Answer May Be Reflected in the Mirror Neuron
autism, mirror neuron defect More »
Showing 1 - 6 of 8 results.
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JOURNAL SCAN
Instruction manual part 2e volume tabular index 2011
www.cdc.gov -
Contents Introduction.1 Acknowledgements.4 WHO Collaborating Centres for Classification of Diseases.5 Report of the International Conference for the Tenth Revision of the International Classification of Diseases.7 List of three-character
Instruction manual part 2e Tabular list for 2009 (Volume 1)
www.cdc.gov -
Contents Introduction.1 Acknowledgements.4 WHO Collaborating Centres for Classification of Diseases.5 Report of the International Conference for the Tenth Revision of the International Classification of Diseases.7 List of three-character
Instruction manual 2e (volume 1) ICD-10 tabular list
www.cdc.gov -
i Contents Introduction.1 Acknowledgements.4 WHO Collaborating Centres for Classification of Diseases.5 Report of the International Conference for the Tenth Revision of the International Classification of Diseases.7 List of three-character categories
Instruction manual part 2e- Volume 1
www.cdc.gov -
i Contents Introduction.1 Acknowledgements.4 WHO Collaborating Centres for Classification of Diseases.5 Report of the International Conference for the Tenth Revision of the International Classification of Diseases.7 List of three-character categories
Instruction manual part 2e- Volume 3
www.cdc.gov -
SECTION I Alphabetical index to diseases and nature of injury. ALPHABETICAL INDEX TO DISEASES AND NATURE OF INJURY A-1 A Aarskog's syndrome Q87.1 Abandonment T74.0 Abasia(-astasia) ( ... hysterical) F44.4 Abdomen, abdominal - see also condition - acute
 
MEDLINE
CDKL5, a novel MYCN-repressed gene, blocks cell cycle and promotes differentiation of neuronal cells.
pubmed.gov - 12/2/12
Mutations in the CDKL5 (cyclin-dependent kinase-like 5) gene are associated with a severe epileptic encephalopathy (early infantile epileptic encephalopathy type 2, EIEE2) characterized by early-onset intractable seizures, infantile spasms, severe developmental delay, intellectual disability, and Rett syndrome (RTT)-like features. Despite the clear involvement of CDKL5 mutations in intellectual disability, the function of this protein during brain development and the molecular mechanisms involved in its regulation are still unknown. Using human neuroblastoma cells as a model system we found that an increase in CDKL5 expression caused an arrest of the cell cycle in the G(0)/G(1) phases and induced cellular differentiation. Interestingly, CDKL5 expression was inhibited by MYCN, a transcription factor that promotes cell proliferation during brain development and plays a relevant role in neuroblastoma biology. Through a combination of different and complementary molecular and cellular
Epilepsy in Rett syndrome, and CDKL5- and FOXG1-gene-related encephalopathies.
pubmed.gov - 11/30/12
Rett syndrome is an X-linked neurodevelopmental disorder that manifests in early childhood with developmental stagnation, and loss of spoken language and hand use, with the development of distinctive hand stereotypies, severe cognitive impairment, and autistic features. About 60% of patients have epilepsy. Seizure onset before the age of 3 years is unlikely, and onset after age 20 is rare. Diagnosis of Rett syndrome is based on key clinical elements that identify "typical" Rett syndrome but also "variant" or "atypical" forms. Diagnostic criteria have been modified only slightly over time, even after discovering that MECP2 gene alterations are present in >90% of patients with typical Rett syndrome but only in 50-70% of atypical cases. Over the last several years, intragenic or genomic alterations of the CDKL5 and FOXG1 genes have been associated with severe cognitive impairment, early onset epilepsy and, often, dyskinetic movement disorders, which have variably been defined as Rett
Growth failure and outcome in Rett syndrome: specific growth references.
pubmed.gov - 10/15/12
Prominent growth failure typifies Rett syndrome (RTT). Our aims were to 1) develop RTT growth charts for clinical and research settings, 2) compare growth in children with RTT with that of unaffected children, and 3) compare growth patterns among RTT genotypes and phenotypes.|A cohort of the RTT Rare Diseases Clinical Research Network observational study participants was recruited, and cross-sectional and longitudinal growth data and comprehensive clinical information were collected. A reliability study confirmed interobserver consistency. Reference curves for height, weight, head circumference, and body mass index (BMI), generated using a semiparametric model with goodness-of-fit tests, were compared with normative values using Student's t test adjusted for multiple comparisons. Genotype and phenotype subgroups were compared using analysis of variance and linear regression.|Growth charts for classic and atypical RTT were created from 9,749 observations of 816 female participants.
Treatment of neurodevelopmental disorders in adulthood.
pubmed.gov - 10/9/12
Brain development in neurodevelopmental disorders has been considered to comprise a sequence of critical periods, and abnormalities occurring during early development have been considered irreversible in adulthood. However, findings in mouse models of neurodevelopmental disorders, including fragile X, Rett syndrome, Down syndrome, and neurofibromatosis type I suggest that it is possible to reverse certain molecular, electrophysiological, and behavioral deficits associated with these disorders in adults by genetic or pharmacological manipulations. Furthermore, recent studies have suggested that critical period-like plasticity can be reactivated in the adult brain by environmental manipulations or by pharmacotherapy. These studies open up a tantalizing possibility that targeted pharmacological treatments in combination with regimes of training or rehabilitation might alleviate or reverse the symptoms of neurodevelopmental disorders even after the end of critical developmental periods.
Brain activity mapping in Mecp2 mutant mice reveals functional deficits in forebrain circuits, including key nodes in the default mode network, that are reversed with ketamine treatment.
pubmed.gov - 10/2/12
Excitatory-inhibitory imbalance has been identified within specific brain microcircuits in models of Rett syndrome (RTT) and other autism spectrum disorders (ASDs). However, macrocircuit dysfunction across the RTT brain as a whole has not been defined. To approach this issue, we mapped expression of the activity-dependent, immediate-early gene product Fos in the brains of wild-type (Wt) and methyl-CpG-binding protein 2 (Mecp2)-null (Null) mice, a model of RTT, before and after the appearance of overt symptoms (3 and 6 weeks of age, respectively). At 6 weeks, Null mice exhibit significantly less Fos labeling than Wt in limbic cortices and subcortical structures, including key nodes in the default mode network. In contrast, Null mice exhibit significantly more Fos labeling than Wt in the hindbrain, most notably in cardiorespiratory regions of the nucleus tractus solitarius (nTS). Using nTS as a model, whole-cell recordings demonstrated that increased Fos expression in Nulls at 6 weeks



 
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