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OBJECTIVE: Crouzon syndrome with acanthosis nigricans (CAN) is caused by the specific mutation c.1172C>A (p.Ala391Glu) in the fibroblast growth factor receptor 3 gene, and has an estimated prevalence of 1:1,000,000 births. Most cases occur de novo; however, autosomal dominant inheritance may occur. The clinical presentation typically includes craniosynostosis, midface and maxillary hypoplasia, choanal atresia/stenosis, hydrocephalus, and intracranial hypertension. Patients develop acanthosis nigricans, a hyperkeratotic skin disorder. The authors present the first known study to investigate the speech, language, hearing, and feeding of patients with CAN. METHODS: A retrospective case-note review of patients with a genetically confirmed diagnosis of CAN attending the Oxford Craniofacial Unit during a 36-year period (1987-2023) was undertaken. RESULTS: Participants were 6 patients with genetically-confirmed CAN (5 females, 1 male), all cases arose de novo. All patients had craniosynostosis (n = 5/6 multisuture synostosis, n = 1/6 left unicoronal synostosis). Hydrocephalus was managed through ventriculoperitoneal shunt in 67% (n = 4/6) of patients, and 67% (n = 4/6) had a Chiari 1 malformation. Patients had a complex, multifactorial feeding history complicated by choanal atresia/stenosis (100%; n = 6/6), and significant midface hypoplasia. All patients required airway management through tracheostomy (83%; n = 5/6); and/or continuous positive airway pressure (67%; n = 4/6). All patients underwent adenotonsillectomy (100%; n = 6/6). Initial failure to thrive, low weight, and/or height were seen in 100% (n = 6/6) patients; 80% (n = 4/5) had reflux; 100% (n = 6/6) had nasogastric, or percutaneous endoscopic gastrostomy based feeding during their treatment journey. All patients had hearing loss (100%; n = 6/6). Early communication difficulties were common: receptive language disorder (50%; n = 3/6); expressive language disorder (50%; n = 3/6); and speech sound disorder in 50% (n = 3/6)-necessitating the use of Makaton in 80% of patients (n = 3/5). CONCLUSIONS: Patients with CAN experience significant respiratory, neurological, and structural obstacles to hearing, speech, language, and feeding. The authors present a recommended pathway for management to support patients in these domains.
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INTRODUCTION: Historically, medical professionals have been the providers of specialist information about rare medical conditions. Now, increasingly, patients and the public are using the internet to access and generate information about medical diagnoses. The global nature of the internet allows patients to connect across geographical borders, and to obtain and share information that would have been previously inaccessible to them. This research investigated the use of website and social media by parents of children with craniosynostosis. METHODS: A cross-sectional survey-based design was employed. Participants were parents of children with craniosynostosis attending multidisciplinary craniofacial clinics within the Oxford Craniofacial Unit. A questionnaire was administered which assessed social media and website use adapted from the questionnaire created by Khouri and colleagues (2016) and Huggons and colleagues (2019). The surveys were administered over an 18-month period (November 2020 to May 2022). RESULTS: The final sample comprised 82 parents [70 mothers; 10 fathers; 1 sister/carer and 1 parent (mother/father unspecified)]. The children were aged 11 months-16 years of age (average age 6 y and 3 mo). Children had a variety of diagnoses: 31 sagittal, 19 metopic, 14 syndromic craniosynostosis, 8 unicoronal, 6 multisuture, 3 bicoronal, and 1 unilambdoid.Results showed that 93% (n=76/82) of parents used the internet to find out more about craniosynostosis, with 72% (n=59/82) of parents specifically using social media to find out more about craniosynostosis. The social media platforms used included: Facebook 64% (n=53/82), Instagram 24% (n=20/82), Blogs 12% (n=10/82), Twitter 4% (n= 4/82), Tik Tok 2% (n=2/82), and Snapchat 0.01% (n=1/82).Parents reported that Facebook was the most helpful source of information about craniosynostosis (52%; n=43/82). Parents indicated the key timepoints they used social media included: when their child received a diagnosis (70%; n=58/82), before their child's surgery (34%; n=28/82), before their first craniofacial clinic appointment (83%; n=25/30), and when child was older (17%; n=14/84). Forty percent (n=33/82) of parents said that a diagnosis of craniosynostosis made no difference to their social media use, whereas 34% (n=28/82) of parents used social media more, and 20% (n=16/82) used it less. CONCLUSION: Results highlight that parents use social media and other websites to access information relating to craniosynostosis. Future research should examine whether parental use of social media changes across their child's lifespan and evaluate the quality of this information.
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Craneosinostosis , Medios de Comunicación Sociales , Niño , Femenino , Humanos , Cuidadores , Estudios Transversales , Padres , Enfermedades RarasRESUMEN
Apert syndrome (AS) is caused by the heterozygous presence of 1 of 2 specific missense mutations of the fibroblast growth factor receptor 2 (FGFR2) gene. The 2 adjacent substitutions, designated p.Ser252Trp (S252W) and p.Pro253Arg (P253R), account for more than 98% of cases. Previous research has identified elevated hearing difficulties and incidence of cleft palate in this population. However, the influence of FGFR2 genotype on the speech, language, and communicative participation of children with AS has yet to be examined. METHODS: A retrospective case note analysis was completed for all patients with a genetically-confirmed Apert mutation who attended the Oxford Craniofacial Unit over a 43-year period (1978-2020). Medical records were analyzed for speech, language, hearing, and communication data in detail. The therapy outcome measures, based on the World Health Organization International Classification of Functioning, Disability, and Health was used to classify patient's communicative participation. RESULTS: The authors identified 55 AS patients with genetically-confirmed mutation of the FGFR2 gene. One patient with a S252F mutation was excluded. There were 31 patients with the S252W mutation (maleâ=â14; femaleâ=â17), age range of last hearing assessment (1-18âyears), 64% (18/28) of patients had a cleft palate (including bifid uvula), 15 patients had conductive hearing loss, 1 patient had mixed hearing loss, 18 had otitis media with effusion (4 of whom had a cleft palate); 88% (21/24) of patients had receptive language difficulties, 88% (22/25) of patients had expressive language difficulties, 96% (27/28) of patients had a speech sound disorder. There were 23 patients with the P253R mutation (maleâ=â13; femaleâ=â10); age range of last hearing assessment (1-13âyears), 35% (8/23) patients had a cleft palate (including bifid uvula), 14 patients had a conductive hearing loss, 17 had otitis media with effusion (2 of whom had a cleft palate). Results indicated that 85% (17/20) of patients had receptive language difficulties, 80% (16/20) had expressive language difficulties, 100% (21/21) had a speech sound disorder. The S252W mutation was significantly-associated with the presence of cleft palate (including bifid uvula) (Pâ =â0.05).Data about the cumulative impact of all of these factors for communicative participation using the therapy outcome measures were available for 47 patients: (30 S252W; 17 P253R). Patients with a S252W mutation had significantly more severe difficulties with communicative participation when compared to individuals with a P253R mutation (Pâ =â0.0005) Cochran-Armitage trend test. CONCLUSIONS: Speech, language, communicative participation, and hearing difficulties are pervasive in patients with AS. The severity and functional impact of these difficulties are magnified in patients with the S252W mutation. Results reinforce the importance of considering patients with AS according to genotype.
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Acrocefalosindactilia , Fisura del Paladar , Acrocefalosindactilia/genética , Adolescente , Niño , Preescolar , Comunicación , Femenino , Audición , Humanos , Lactante , Lenguaje , Masculino , Mutación , Receptor Tipo 2 de Factor de Crecimiento de Fibroblastos/genética , Estudios Retrospectivos , HablaRESUMEN
ABSTRACT: Heterozygous mutations in the TCF12 gene were discovered in 2013 as a cause of craniosynostosis (CS). However, limited information regarding the behavioral phenotypic profile is available. Here the authors provide the first detailed study of the neurodevelopmental, cognitive, and psychosocial outcomes for patients with a pathogenic TCF12 variant and associated CS.A clinical casenote audit was conducted at the 4 UK highly specialized craniofacial centers. A total of 35 patients aged 18âmonths to 10âyears with an identified TCF12 pathogenic variant and CS (bicoronal CSâ=â45.7%, unicoronal CSâ=â40.0%, multisutureâ=â14.3%) were included. Standardized screening and/or assessment of full-scale intelligence quotient, social communication, development, behavior, and self-concept were conducted.In the majority of cases, outcomes were consistent with age-related expectations. About 75% of patients demonstrated no delay across any early developmental domain, while 84.6% demonstrated full-scale intelligence quotient scores within 1 standard deviation of the population mean. Significant behavioral difficulties were demonstrated by parent reporters in 26.3% to 42.1% of cases (dependent upon domain). Clinically elevated social communication profiles were present in (41.7%) of parent-reported cases. Levels of self-concept (at age 10) were consistent with age-related normative data.Most patients with a TCF12 pathogenic variant had a mild behavioral and cognitive phenotype, although they may be at a slightly increased risk of social communication difficulties and psychosocial issues. Although not measured statistically, there were no clear associations between surgical history and cognitive, behavioral, or psychosocial outcomes. This paper highlights the need for robust integrated developmental assessment of all CS patients, particularly those with an identified syndrome.
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Factores de Transcripción con Motivo Hélice-Asa-Hélice Básico/genética , Craneosinostosis , Niño , Preescolar , Cognición , Craneosinostosis/genética , Heterocigoto , Humanos , Lactante , Mutación , FenotipoRESUMEN
BACKGROUND: Patients, parents, and carers are increasingly using social media to access and contribute to health information. There are currently 3.484 billion active social media users. Instagram is a primarily visual social media platform for sharing photographs and videos with currently over one billion monthly active users. Limited research has investigated the use of Instagram in healthcare contexts including plastic surgery, and in the treatment of specific conditions, such as fibromyalgia and scoliosis. This study aimed to investigate the use of Instagram in relation to craniofacial surgery. METHODS: The authors investigated the use of 12 Instagram craniofacial surgery-related hashtags. Quantitative and qualitative data were collected for each of the "top" nine posts associated with each hashtag. Duplicate posts, posts not in English and those not relevant to craniofacial surgery were excluded.Thematic analysis was then used to qualitatively evaluate the captions and comments of each of the nine "top" posts associated with each hashtag. RESULTS: A total number of 151,738 posts were identified using the 12 hashtags queried in the present study, with #craniofacial being the most popular hashtag (87% of posts). Parents (nâ=â25, 33%) and surgeons (nâ=â25, 33%) were responsible for the majority of posts. A heterogenous group were responsible for the remaining 34% of posts.Results indicated that parents and surgeons posted significantly different images (chi-squared with Yates correlation is 25.0519, Pâ <â0.00001). Parents' posts were predominantly images of their child/patients (nâ=â24) compared to posts about patients by surgeons (nâ=â6). Posts by surgeons were predominantly images of professionals (nâ=â14) compared to images of professionals posted by parents (nâ=â1).Results of qualitative analysis of captions of posts indicated a significant difference in themes that emerged between parents and surgeons; with surgeons largely using Instagram for information giving, and parents for sharing of experiences (chi-square (nâ=â108)â=â40.83, Pâ <â0.00001).There was a significant difference (two-tailed t test, Pâ =â0.002) in engagement (measured by the number of likes on posts) on posts by parents (meanâ=â3778) compared to posts by surgeons (meanâ=â135.4). CONCLUSIONS: Results indicate that craniofacial-surgery related posts on Instagram provide a medium to allow individuals and families with rare disorders to connect and share their experiences. The use of Instagram to share information about craniofacial abnormalities via Instagram has the potential to be used by healthcare professionals to educate and support patients and families.
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Procedimientos de Cirugía Plástica , Medios de Comunicación Sociales , Cirujanos , Cirugía Plástica , Niño , Humanos , PadresRESUMEN
ABSTRACT: Many factors that may co-occur with craniosynostosis, such as oral structural anomalies, hearing impairment, visual impairment, cognitive difficulties and psychosocial factors, may predispose this population to communication difficulties. At the Oxford Craniofacial Unit, children's speech, language and communication are regularly monitored in accordance with a systematic developmental screening protocol developed by the Speech and Language Therapists in the 4 United Kingdom (UK) Highly Specialized Craniofacial Centers. In addition to routine assessments, when parents attend routine multidisciplinary clinic appointments, they are asked about their child's communication development, and whether they have any concerns.A retrospective review was undertaken of parental concerns about hearing, speech development, behavior, physical development, concentration, school and friendships as indicated by parents on the Oxford Craniofacial Unit Pre-Clinic Questionnaire. The areas of concern were then correlated with the results of a standardized, guided parent questionnaire about children's language development, (Children's Communication Checklist - 2 (CCC-2)), to determine whether parental concern alone is a reliable way of identifying whether patients require further assessment for Language Disorder associated with Craniosynostosis.Participants were parents of 89 monolingual English-speaking children with craniosynostosis (62 male; 27 female), age range four to 13 years (mean ageâ=â8 years 7 months), receiving active care at the Oxford Craniofacial Unit (June 2017-July 2018). Results of the pre-clinic questionnaire indicated that 6% of parents had concerns about their child's communication development. Results of the CCC-2 indicated that 29/89 (32.6%) of children required further assessment for Language Disorder associated with Craniosynostosis. When language difficulties were identified on the CCC-2, only 14% (nâ=â4/29) parents indicated concern on the pre clinic questionnaire. Results indicated that parental concern about behavior was the most important factor in identifying language disorder (Pâ=â0.023).Results reinforce that the pre-clinic questionnaire is useful for identifying areas of parental concern. Results also indicate that parental concern alone is not sufficient to identify language disorder, and that further, detailed assessment is warranted. The results are consistent with previously reported links between behavior and language in the general population.
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Craneosinostosis , Trastornos del Lenguaje , Niño , Femenino , Humanos , Lactante , Masculino , Padres , Estudios Retrospectivos , Reino UnidoRESUMEN
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 genetically-confirmed 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 domain-hotspot, 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 (nâ=â8) followed by bicoronal (nâ=â3), and bicoronal and sagittal synostosis (nâ=â1). 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 (nâ=â10/12) 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.
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Acrocefalosindactilia , Hidrocefalia , Hipertensión Intracraneal , Acrocefalosindactilia/complicaciones , Acrocefalosindactilia/genética , Comunicación , Humanos , Hidrocefalia/genética , Mutación , Fenotipo , Receptor Tipo 2 de Factor de Crecimiento de Fibroblastos/genética , Estudios RetrospectivosRESUMEN
INTRODUCTION: Facial palsy is often associated with impaired facial function and altered appearance. However, the literature with regards to the psychological adjustment of children and adolescents with facial palsy has not been systematically reviewed to date. This paper aimed to review all published research with regards to psychosocial adjustment for children and adolescents with facial palsy. METHODS: MEDLINE, CINAHL, Embase, PsychInfo and AMED databases were searched and data was extracted with regards to participant characteristics, study methodology, outcome measures used, psychosocial adjustment and study quality. RESULTS: Five studies were eligible for inclusion, all of which investigated psychosocial adjustment in participants with Moebius syndrome, a form of congenital facial palsy. Many parents reported their children to have greater social difficulties than general population norms, with difficulties potentially increasing with age. Other areas of psychosocial adjustment, including behaviour, anxiety and depression, were found to be more comparable to the general population. DISCUSSION: Children and adolescents with Moebius syndrome may experience social difficulties. However, they also demonstrate areas of resilience. Further research including individuals with facial palsy of other aetiologies is required in order to determine the psychosocial adjustment of children and adolescents with facial palsy.
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Ajuste Emocional , Parálisis Facial , Síndrome de Mobius , Adolescente , Ansiedad , Trastornos de Ansiedad , Niño , Estudios Transversales , Parálisis Facial/psicología , Femenino , Humanos , Masculino , Síndrome de Mobius/psicologíaRESUMEN
PURPOSE: Facial palsy is a condition which can lead to significant changes in facial function and appearance. People with facial palsy often report psychosocial difficulties, including withdrawal from social activities, anxiety, negative body image, and low mood. This paper aimed to review all published research investigating the psychosocial impact of facial palsy on adults. METHODS: A systematic search of MEDLINE, CINAHL, EMBASE, PsycINFO, and AMED databases was performed. The quality of included studies was assessed, and data were extracted with regard to characteristics of participants; study methodology and design; outcome measures used; and psychosocial outcomes. RESULTS: Twenty-seven studies met inclusion criteria. A high proportion of people with facial palsy reported clinically significant levels of anxiety and depression, with greater difficulties typically reported by females, compared to males. Other difficulties consistently reported include low quality of life, poor social function, and high levels of appearance-related distress. Objective severity of facial palsy was consistently shown to not be associated with anxiety or depression, with psychological factors instead likely mediating the relationship between the severity of facial palsy and psychosocial well-being. CONCLUSIONS: Irrespective of objective symptom severity, facial palsy has the potential to have a significant impact on psychosocial well-being and quality of life. The various methodological limitations of the included studies are discussed, along with clinical implications, including the need for greater access to psychological screening and interventions for people with facial palsy.
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Imagen Corporal/psicología , Parálisis Facial/psicología , Calidad de Vida/psicología , Estrés Psicológico , Adulto , Ansiedad , Trastornos de Ansiedad , Femenino , Humanos , MasculinoRESUMEN
The purpose of this retrospective study was to assess the genetic and phenotypic features of patients with craniofrontonasal syndrome (CFNS), and the implications of the condition for multidisciplinary management.The subjects were 25 female patients with a mutation of EFNB1, who presented to the Oxford Craniofacial Unit during a 38-year period. Medical records were reviewed for genetic and phenotypic information. Mean duration of follow-up was 12.6 years (range 0-30.7 years).This study examines neurodevelopment in constituent parts, with specific reference to speech, language, and cognition in relation to genotype. Three children had deletions extending beyond the EFNB1 gene; the 2 with available data presented with speech, language, or cognitive delay. The remaining 25 patients had intragenic mutations of EFNB1. Of these 25, those assessed in detail showed variable difficulties with speech and language development; 57% had receptive language difficulties (nâ=â4/7) and 88% had expressive language difficulties (nâ=â8/9). 55% presented with speech difficulties (nâ=â6/11). 2/3 patients with abnormal hearing had speech difficulties; 4/5 with normal hearing had normal speech development. Cognitive assessments indicated that IQ is variable; with full scale IQ ranging from 69 to 100.The complex, multifactorial presentation of patients with CFNS contributed to 41% (nâ=â7/17) of patients requiring additional educational support.Our results demonstrated significant multidisciplinary input is required, including Speech and Language Therapy, Plastic and Reconstructive Surgery, Genetics, Ear, Nose and Throat, Maxillofacial, Orthodontic, Orthopaedic, Clinical Psychology and Orthoptic teams. The results of this study reinforce the importance of multi-disciplinary long-term follow-up of children with CFNS.
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Anomalías Craneofaciales , Adolescente , Adulto , Niño , Preescolar , Cognición , Anomalías Craneofaciales/genética , Anomalías Craneofaciales/terapia , Efrina-B1/genética , Femenino , Humanos , Lactante , Recién Nacido , Desarrollo del Lenguaje , Masculino , Mutación , Estudios Retrospectivos , Trastornos del Habla/terapia , Logopedia , Adulto JovenRESUMEN
Saethre-Chotzen syndrome (SCS) is an autosomal dominant condition defined by mutations affecting the TWIST1 gene on chromosome 7p21.1. Previous research has identified an elevated prevalence of intracranial hypertension and hearing impairment associated with this syndrome. This study aimed to investigate the influence of hearing history and presence of intracranial hypertension on language development in children with SCS.A retrospective study note analysis was performed for all patients with a confirmed TWIST1 gene abnormality who attended the Oxford Craniofacial Unit and underwent a language assessment over a 22-year period. Intracranial pressure monitoring, hearing status, and language outcomes were examined in detail.Thirty patients with genetically confirmed SCS and language assessment data were identified. Twenty-eight patients underwent surgical intervention; 10 presented with intracranial hypertension (5 prior to, and 5 after primary surgical intervention). Language data coinciding with the presentation of intracranial hypertension were available for 8 children. About 44% of children with intracranial hypertension presented with concurrent receptive and expressive language delay (nâ=â4/8). For both children (nâ=â2) with longitudinal language data available, the onset of intracranial hypertension reflected a concurrent decline in language skills. Audiometric data were available for 25 children, 80% (nâ=â20/25) had a history of hearing loss. About 50% of these had confirmed conductive hearing loss with middle ear effusion and the other 50% had presumed conductive hearing loss with middle ear effusion. About 100% of the children with available hearing data in our study had evidence of middle ear effusion in at least 1 ear. Results also indicated that 43% (nâ=â13/30) of the children presented with receptive and/or expressive language delay during childhood.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 are indicated in children with SCS.
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Acrocefalosindactilia/genética , Pérdida Auditiva/genética , Hipertensión Intracraneal/genética , Desarrollo del Lenguaje , Proteínas Nucleares/genética , Proteína 1 Relacionada con Twist/genética , Acrocefalosindactilia/complicaciones , Audiometría/métodos , Niño , Preescolar , Femenino , Pérdida Auditiva/complicaciones , Humanos , Hipertensión Intracraneal/complicaciones , Masculino , Mutación , Otitis Media con Derrame/complicaciones , Estudios RetrospectivosAsunto(s)
Parálisis Facial/terapia , Psicoterapia de Grupo/métodos , Adolescente , Niño , Preescolar , Expresión Facial , Parálisis Facial/fisiopatología , Parálisis Facial/psicología , Femenino , Humanos , Masculino , Relaciones Padres-Hijo , Satisfacción del Paciente/estadística & datos numéricos , Autocuidado/métodos , Apoyo Social , Resultado del TratamientoRESUMEN
BACKGROUND: There is currently a mandate globally to incorporate patient's perceptions of their illness into outcome measures, in order to provide a deeper insight into medical practice. Facial nerve palsy (FNP) is a devastating condition that can significantly impact quality of life. However, no measure currently exists that comprehensively assesses outcome in FNP using patient perception. The aim of this study is to explore patients' experiences of FNP with the aim of informing the development of a patient-reported outcome measure. METHODS: Presented is a qualitative study, using in-depth semi-structured interviews with FNP patients. An interview guide was developed using expert opinion and a literature review. Interpretative description was used as the qualitative approach. Interviews were audio-recorded, transcribed, and coded line-by-line. Codes were refined using the constant comparison approach. Interviews continued until data saturation was reached. The data were used to develop a conceptual framework of patient perceived issues relating to FNP. RESULTS: The sample included 5 men and 9 women aged 57.7 years (range, 36-78) with a range of causes of FNP, including Bell's palsy (n = 5), acoustic neuroma (n = 3), trauma (n = 2), meningioma (n = 1), muscular dystrophy (n = 1), congenital (n = 1), and Ramsay Hunt syndrome (n = 1). Analysis of the 14 participant interviews led to identification of 5 major domains including "facial function concerns," "appearance concerns," "psychological function," "social function," and "experience of care." CONCLUSION: This study provides a conceptual framework covering outcomes that matter to patients with FNP, which can be used to inform the development of a new comprehensive FNP-specific patient-reported outcome measure.
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BACKGROUND: Neonatal screening for galactosaemia (GAL) identifies the condition early, but subsequent biomedical and genetic testing fails to identify which subgroup of infants with GAL are at most risk of the language disorders associated with the condition. This study aims to present preliminary data on an infant with GAL based on assessment of pre-linguistic communication behaviours known to underpin language development. METHODS: This single case-control study profiles the pre-linguistic skills of a 13-month-old infant with GAL. The Index Infant's performance was descriptively compared to that of a typically developing, suitably matched control infant. RESULTS: The Index Infant was identified as presenting with clinically significant delays on 9 of the 11 pre-linguistic skills assessed. DISCUSSION AND CONCLUSION: The early identification of risk of developmental language difficulties in the Index Infant allows for the implementation of early intervention using the infant's parents as facilitators of language stimulation. Monitoring of the infant's progress is warranted.
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Comunicación , Galactosemias/fisiopatología , Trastornos del Desarrollo del Lenguaje/fisiopatología , Desarrollo del Lenguaje , Estudios de Casos y Controles , Intervención Educativa Precoz , Galactosemias/complicaciones , Humanos , Lactante , Trastornos del Desarrollo del Lenguaje/complicaciones , Masculino , PadresRESUMEN
Cross-sectional methodologies have revealed age-related deterioration in cognitive performance, reflecting progressive neurodegenerative change in a minority of children and adolescents with classic galactosemia (GAL). The application of longitudinal methodologies sensitive to age-related changes at the individual level is needed to determine the extent of any possible decline in function in children with GAL. The authors report on the developmental language outcomes of a 9-year-old female with GAL through an examination of her language development over a 7-year period using a performance tracking system based on the use of raw performance scores required for attainment at the 50th percentile for age. Raw scores typically increase systematically over time and are thus more sensitive to developmental changes. Results suggest that there was no decline in the child's language skills over the course of the investigation. For the case presented, the use of raw scores offered a means of examining the child's patterns of individual change, which revealed stable language skills over the period of monitoring, perhaps indicating a stable disease process for this particular child. The authors propose this descriptive application of raw performance scores that offers a means to determine neurodevelopmental outcomes in the disorder.
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Galactosemias/fisiopatología , Desarrollo del Lenguaje , Trastornos del Lenguaje/diagnóstico , Niño , Progresión de la Enfermedad , Femenino , Galactosemias/complicaciones , Humanos , Discapacidad Intelectual/diagnóstico , Discapacidad Intelectual/etiología , Trastornos del Lenguaje/etiología , Trastornos del Lenguaje/terapia , Pruebas del Lenguaje , Discapacidades para el Aprendizaje/diagnóstico , Discapacidades para el Aprendizaje/etiología , Estudios Prospectivos , Análisis y Desempeño de TareasRESUMEN
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 criterion-referenced 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.