Facial palsy (FP) affects an estimated 100,000 people in the United Kingdom (Facial Palsy UK, 2012). It is characterised by facial muscle weakness resulting from damage to the facial nerve and is associated with congenital conditions, such as Moebius syndrome, and acquired conditions, such as Bell's palsy, Ramsay Hunt syndrome, trauma affecting the facial nerve, and acoustic neuroma. FP can cause a range of issues including: corneal exposure leading to blindness; visual disturbance; problems with facial function, leading to difficulties with facial expression, eating, drinking, hearing and/or speaking (Shindo, 1999).Current treatment options include: injections of Botulinum Toxin A (Filipo, Spahiu, Covelli, Nicastri, & Bertoli, 2012); static and dynamic surgical procedures (Ghali, MacQuillan, & Grobbelaar, 2011) and facial therapy focusing on rehabilitating function and appearance (van Landingham, Diels, & Lucarelli, 2018). Options to protect the ocular surface include eyelid repositioning surgery, eyelid loading with weights and tear duct surgery (Schrom, Buchal, Ganswindt, & Knipping, 2009). Changes in facial function and appearance due to FP, as well as uncertainty about recovery, can result in anxiety, social isolation and concealment of facial appearance, with individuals with FP also reporting low self-esteem, high levels of self-consciousness and concerns about mood (Norris et al., 2019). These psychosocial difficulties may reflect the impact of FP on the use of the face to express emotions, a skill which is crucial for communication (Coulson, O'Dwyer, Adams, & Croxson, 2004). The visible difference associated with FP is often made more apparent by difficulties in facial movement with many affected avoiding facial expression of emotion (Bradbury, Simons, & Sanders, 2006). Others can interpret this absence of expression negatively, leading to greater avoidance of social interactions by individuals with FP. These parallel issues lead to a combined challenge of being unable to express oneself and stigma for having a visible facial difference (Bogart, Tickle-Degnen, & Joffe, 2012). ObjectivesNo paper has systematically reviewed the literature investigating the psychosocial impact of FP. Instead, previous reviews have focused on observer perceptions (Nellis, Ishii, Boahene, & Byrne, 2018) and the quality of patient-reported outcome measures (Ho et al., 2012). This review aims to provide a deeper understanding of FP by 1) systematically reviewing the impact of FP on levels of psychological distress, social function and quality of life (QoL) and 2) determining the demographic factors (e.g. age, duration of FP, aetiology, gender etc.) associated with poorer psychosocial outcomes. Methods Protocol and registrationInclusion criteria and methods for study selection were specified in advance and documented in a BLINDED-registered protocol (DETAILS BLINDED FOR SUBMISSION).. Information sourcesStudies were identified by searching electronic databases and by scanning the reference lists of included studies. Literature ...

Given the importance of hearing for language development and the preliminary findings of a potential decline in language skills in children during periods of intracranial hypertension, regular follow up of hearing, language and intracranial hypertension is indicated in children with SCS.

Educational achievement, which for individuals with the metabolic disorder classic galactosemia (GAL) is significantly lower than in the wider population, correlates with self-reported quality of life. Phonological awareness skills underpin the development of literacy, and although literacy is a key contributor to successful academic outcomes, no study to date has investigated phonological awareness skills in children with GAL. This study investigated phonological awareness (PA) in four school-aged children with the disorder, two of whom were siblings. Age range for the children was 7 years 7 months to 9 years 2 months. Each child was assessed with the Phonological Awareness criterionreferenced subtest from the Clinical Evaluation of Language Fundamentals-Fourth Edition. Included in the data for analysis was each child's performance measures obtained from their most recent assessment of cognitive and lexical development. A number of descriptive analyses were undertaken on the data. One child, who met her age criterion for PA, had cognitive and lexical development skills in the average range. The remaining three children failed to meet their age criteria. Although these three children presented with clinically similar cognitive and lexical development skills, disparate PA skills were identified. The PA skills of one of the sibling pair were notably more advanced than his older sibling. The limitations of relying on behavioural test results in children with GAL to predict those most at risk of reduced skill development are discussed in terms future research directions.

Background: Pfeiffer syndrome is associated with a genetic mutation of the FGFR2 (or more rarely, FGFR1) gene, and features the combination of craniosynostosis, midface hypoplasia, broad thumbs and broad great toes. Previous research has identified a wide spectrum of clinical phenotypes in patients with Pfeiffer syndrome. This study aimed to investigate the multifactorial considerations for speech, language, hearing and feeding development in patients with severe geneticallyconfirmed Pfeiffer syndrome.Methods: A 23-year retrospective case-note review of patients attending the Oxford Craniofacial Unit was undertaken. Patients were categorized according to genotype. Patients with mutations located in FGFR1, or outside the FGFR2 IgIII domainhotspot, or representing known Crouzon/Pfeiffer overlap substitutions were excluded. Twelve patients with severe FGFR2-associated Pfeiffer syndrome were identified.Results: Patients most commonly had pansynostosis (n=8) followed by bicoronal (n=3), and bicoronal and sagittal synostosis (n=1). Seven patients had a Chiari I malformation. Four patients had a diagnosis of epilepsy. Ten patients had with hydrocephalus necessitating ventriculoperitoneal shunt insertion.Feeding difficulties were common (n=10/12) and multifactorial. In 5/12 cases, they were associated with pansynostosis, hydrocephalus, tracheostomy and tube feeding in infancy.Hearing data were available for 10 patients, of whom 9 had conductive hearing loss, and 8 required hearing aids. Results indicated that 3/4 patients had expressive language difficulties, 3/4 had appropriate receptive language skills. 6/12 patients had a speech sound disorder and abnormal resonance. Conclusion:This study has identified important speech, language, hearing and feeding issues in patients with severe FGFR2-associated Pfeiffer syndrome. Results indicate that a high rate of motor-based oral stage feeding difficulties, and pharyngeal stage swallowing difficulties necessitating regular review by specialist craniofacial speech and language therapists