- Early Detection, Diagnosis and Intervention Services for Young Children with Autism Spectrum Disorder in the European Union (ASDEU): Family and Professional Perspectives. [Journal Article]J Autism Dev Disord 2019JA
- Early services for ASD need to canvas the opinions of both parents and professionals. These opinions are seldom compared in the same research study. This study aims to ascertain the views of families and professionals on early detection, diagnosis and intervention services for young children with ASD. An online survey compiled and analysed data from 2032 respondents across 14 European countries (…
Early services for ASD need to canvas the opinions of both parents and professionals. These opinions are seldom compared in the same research study. This study aims to ascertain the views of families and professionals on early detection, diagnosis and intervention services for young children with ASD. An online survey compiled and analysed data from 2032 respondents across 14 European countries (60.9% were parents; 39.1% professionals). Using an ordinal scale from 1 to 7, parents' opinions were more negative (mean = 4.6; SD 2.2) compared to those of professionals (mean = 4.9; SD 1.5) when reporting satisfaction with services. The results suggest services should take into account child's age, delays in accessing services, and active stakeholders' participation when looking to improve services.
- A Consensus on the Diagnosis and Treatment of Acromegaly Comorbidities: An Update. [Journal Article]J Clin Endocrinol Metab 2019JC
- CONCLUSIONS: Evidence-based approach consensus recommendations address important clinical issues regarding multidisciplinary management of acromegaly-related cardiovascular, endocrine, metabolic, and oncologic comorbidities, sleep apnea, and bone and joint disorders and their sequelae, as well as their effects on quality of life and mortality.
- Quality of life of children with hearing loss in special and mainstream education: A longitudinal study. [Journal Article]Int J Pediatr Otorhinolaryngol 2019; 128:109701IJ
- CONCLUSIONS: The QoL of children with HL in mainstream education and the Physical and Emotional QoL of all children with HL were satisfactory. It is essential to develop specific guidance regarding school activities for children with HL in special education and for children with HL who switch to mainstream education in order to increase their social QoL.
- Binaural processing and phonological awareness in Australian Indigenous children from the Northern Territory: A community based study. [Journal Article]Int J Pediatr Otorhinolaryngol 2019; 128:109702IJ
- CONCLUSIONS: The significant correlations between phonological awareness and dichotic listening as well as phonological awareness with listening to speech-in-noise skills suggests auditory processing, rather than hearing thresholds per se, are associated to phonological awareness abilities of this cohort of children. This suggests that the ability to process the auditory signal is critical.
- Psychometric properties of the Kurdish version of Pittsburgh Sleep Quality Index. [Journal Article]Sleep Med 2019; 63:75-81SM
- CONCLUSIONS: The results of this study support the PSQI's validity and reliability. This study offers a foundation for further studies in Kurdish populations.
- Refined Functional Magnetic Resonance Imaging and Magnetoencephalography mapping reveals reorganization in language-relevant areas of lesioned brains. [Journal Article]World Neurosurg 2019WN
- CONCLUSIONS: The more detailed subdivision of language relevant brain areas shown in this study can help to achieve more radical tumor resection without postoperative language deficits.
- Sleep and neurocognitive decline in the Hispanic Community Health Study/Study of Latinos. [Journal Article]Alzheimers Dement 2019AD
- CONCLUSIONS: Long sleep duration predicted seven-year cognitive decline.
- Sex/gender differences in cognitive trajectories vary as a function of race/ethnicity. [Journal Article]Alzheimers Dement 2019AD
- CONCLUSIONS: This study takes an important first step in understanding interactions between race/ethnicity and sex/gender on cognitive trajectories by demonstrating variability in sex/gender differences across race/ethnicity.
- Is sitting invisible? Exploring how people mentally represent sitting. [Journal Article]Int J Behav Nutr Phys Act 2019; 16(1):85IJ
- CONCLUSIONS: 'Sitting' is a less accessible cognitive representation of seated activities than are representations based on the purpose and implications of seated action. Findings suggest that self-report measures should focus on time spent in seated activities, rather than attempting to measure sitting time via direct recall. From an intervention perspective, findings speak to the importance of targeting behaviours that entail sitting, and of raising awareness of sitting as a potential precursor to attempting to reduce sitting time.
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- Intracranial vascular pathology in two further patients with Floating-Harbor syndrome: Proposals for cerebrovascular disease risk management. [Journal Article]Eur J Med Genet 2019; :103785EJ
- Floating-Harbor syndrome (FHS) is a rare, heritable disorder caused by variants in the SRCAP gene. Most individuals with FHS have characteristic facial features, short stature, and speech and language impairment. Although FHS has been likely under-diagnosed due to a combination of lack of recognition of the clinical phenotype and limited access to genomic testing, it is a rare condition with arou…
Floating-Harbor syndrome (FHS) is a rare, heritable disorder caused by variants in the SRCAP gene. Most individuals with FHS have characteristic facial features, short stature, and speech and language impairment. Although FHS has been likely under-diagnosed due to a combination of lack of recognition of the clinical phenotype and limited access to genomic testing, it is a rare condition with around 100 individuals reported in the medical literature. Case series have been biased towards younger individuals (vast majority <20 years of age) meaning that it has been challenging to provide accurate medical advice for affected individuals in adulthood. We report two young adults with FHS who presented with intracranial haemorrhage likely secondary to cerebrovascular aneurysms, with devastating consequences, making a total of four FHS patients reported with significant cerebrovascular abnormalities. Three of four patients had hypertension, at least one in conjunction with normal renal structure. We consider possible relationships between hypertension, renal pathology and aneurysms in the context of FHS, and consider mechanisms through which disruption of the SRCAP protein may lead to vascular pathology. We recommend that clinicians should have a low threshold to investigate symptoms suggestive of cerebrovascular disease in FHS. We advise that patients with FHS should have annual blood pressure monitoring from adolescence, renal ultrasound at diagnosis repeated in adulthood, and timely investigation of any neurological symptoms. For patients with FHS, particularly with hypertension, we advise that clinicians should consider at least one MRA (Magnetic Resonance Imaging with Angiography) to check for cerebral aneurysms.