Case Report: Retracing Atypical Development: A Preserved Speech Variant of Rett Syndrome

The subject of the present study is the development of a girl with the preserved speech variant of Rett disorder. Our data are based on detailed retrospective and prospective video analyses. Despite achieving developmental milestones, movement quality was already abnormal during the girl's first half year of life. In addition, early hand stereotypies, idiosyncratic vocalizations, asymmetric eye opening, and abnormal facial expressions are early signs proving that this variant of the Rett complex, too, manifests itself within the first months of life

The Gestalt of functioning in autism revisited: First revision of the International Classification of Functioning, Disability and Health Core Sets

Functioning is a construct capturing how an individual’s engagement in everyday life emerges from the interaction between the individual and their environment. The World Health Organization’s International Classification of Functioning, Disability and Health (ICF) provides a biopsychosocial framework of functioning. Previously, the ICF was adapted for use in autism by developing Core Sets, a selection of ICF codes from the entire classification for specific conditions. Here, we present the first revision of the ICF of the Core sets for autism from a Delphi-like technique, based on evidence from Core Sets validation/linking studies, stakeholder feedback, and the development and piloting of the autism ICF Core Sets platform. Two ICF second-level codes were removed, and 12 were added to the comprehensive autism Core Set. The added codes reflect body functions in various sensory domains, fine hand use, and environmental factors. Changes were extensive for the age-appropriate brief Core Sets where ICF codes from the initial Core Sets were added or removed. The revisions conducted indicate a continued need for regularly updating Core Sets, based on empirical evidence and stakeholder involvement. We recommend the updated Core Sets for future use in autism research and practice in different age groups and contexts

Cerebral Palsy:Early Markers of Clinical Phenotype and Functional Outcome

The Prechtl General Movement Assessment (GMA) has become a cornerstone assessment in early identification of cerebral palsy (CP), particularly during the fidgety movement period at 3-5 months of age. Additionally, assessment of motor repertoire, such as antigravity movements and postural patterns, which form the Motor Optimality Score (MOS), may provide insight into an infant's later motor function. This study aimed to identify early specific markers for ambulation, gross motor function (using the Gross Motor Function Classification System, GMFCS), topography (unilateral, bilateral), and type (spastic, dyskinetic, ataxic, and hypotonic) of CP in a large worldwide cohort of 468 infants. We found that 95% of children with CP did not have fidgety movements, with 100% having non-optimal MOS. GMFCS level was strongly correlated to MOS. An MOS > 14 was most likely associated with GMFCS outcomes I or II, whereas GMFCS outcomes IV or V were hardly ever associated with an MOS > 8. A number of different movement patterns were associated with more severe functional impairment (GMFCS III-V), including atypical arching and persistent cramped-synchronized movements. Asymmetrical segmental movements were strongly associated with unilateral CP. Circular arm movements were associated with dyskinetic CP. This study demonstrated that use of the MOS contributes to understanding later CP prognosis, including early markers for type and severity

The Eldivan ophiolite and volcanic rocks in the İzmir–Ankara–Erzincan suture zone, Northern Turkey: Geochronology, whole-rock geochemical and Nd–Sr–Pb isotope characteristics

Gabbros and dolerite dikes of the Eldivan ophiolite and basaltic volcanic rocks of the ophiolitic mélange in the central part of the İzmir–Ankara–Erzincan (IAE) suture zone were investigated for their 40Ar/39Ar age and whole-rock-major-trace element and Sr–Nd–Pb isotope compositions. Based on geological and geochemical characteristics basaltic volcanic rocks in the ophiolitic mélange are subdivided into two groups (Groups I and II) with ocean island basalts or enriched mid-ocean ridge basalt characteristics, respectively. Gabbros and dolerite dikes of the Eldivan ophiolite (Groups III and IV) have instead geochemical compositions indicative of a subduction-related environment. The volcanic rocks of Group I have 87Sr/86Sr(i) between 0.7037 and 0.7044, ƐNd(i)–DM of −4.5 to −5.6, and 206Pb/204Pb(i) ranging between 18.35 and 18.75. Group II volcanic rocks have higher 87Sr/86Sr(i) values (0.7049–0.7055), ƐNd(i)–DM ranging between −5.4 and −6.0, and 206Pb/204Pb(i) between 18.14 and 18.62. The Nd isotopic signatures and 207Pb/204Pb(i) values of the volcanic rocks of both groups point to a different source with respect to those of the Eldivan ophiolite. The low 206Pb/204Pb(i) values relative to the ophiolitic rocks seem to exclude a significant contribution from a HIMU reservoir, whereas the 207Pb/204Pb(i) values slightly above the NHRL might indicate some contribution from an EM2-type reservoir. Gabbros (Group III) of the Eldivan ophiolite and dolerite dikes (Group IV) cross-cutting the ultramafic part of the ophiolite show 87Sr/86Sr(i) between 0.7038 and 0.7053, ƐNd(i)–DM from −2 to −3.6 and 206Pb/204Pb(i) between 18.10 and 18.80. The gabbros yield ca. 150 Ma 40Ar/39Ar amphibole-plateau ages, which, together with the geochemical data, indicate that they were produced above subducted oceanic lithosphere in the IAE ocean domain in Late Jurassic times. Therefore, the Eldivan ophiolite in the IAE suture zone constitutes a link between the Hellenide–Dinaride ophiolite belts to the west and the Armenian–Iranian ophiolites to the east

What do home videos tell us about early motor and socio-communicative behaviours in children with autistic features during the second year of life - An exploratory study

© 2015 Elsevier Ireland Ltd. Background: Little is known about the first half year of life of individuals later diagnosed with autism spectrum disorders (ASD). There is even a complete lack of observations on the first 6. months of life of individuals with transient autistic behaviours who improved in their socio-communicative functions in the pre-school age. Aim: To compare early development of individuals with transient autistic behaviours and those later diagnosed with ASD. Study design: Exploratory study; retrospective home video analysis. Subjects: 18 males, videoed between birth and the age of 6. months (ten individuals later diagnosed with ASD; eight individuals who lost their autistic behaviours after the age of 3 and achieved age-adequate communicative abili ties, albeit often accompanied by tics and attention deficit). Method: The detailed video analysis focused on general movements (GMs), the concurrent motor repertoire, eye contact, responsive smiling, and pre-speech vocalisations. Results: Abnormal GMs were observed more frequently in infants later diagnosed with ASD, whereas all but one infant with transient autistic behaviours had normal GMs (p. < . 0.05). Eye contact and responsive smiling were inconspicuous for all individuals. Cooing was not observable in six individuals across both groups. Conclusions: GMs might be one of the markers which could assist the earlier identification of ASD. We recommend implementing the GM assessment in prospective studies on ASD