Children with Rare Nager Syndrome-Literature Review, Clinical and Physiotherapeutic Management.

Nager syndrome is a rare human developmental disorder characterized by craniofacial defects including the downward slanting of the palpebral fissures, cleft palate, limb deformities, mandibular hypoplasia, hypoplasia or absence of thumbs, microretrognathia, and ankylosis of the temporomandibular joint. The prevalence is very rare and the literature describes only about a hundred cases of Nager syndrome. There is evidence of autosomal dominant and autosomal recessive inheritance for Nager syndrome, suggesting genetic heterogeneity. The majority of the described causes of Nager syndrome include pathogenic variants in the SF3B4 gene, which encodes a component of the spliceosome; therefore, the syndrome belongs to the spliceosomopathy group of diseases. The diagnosis is made on the basis of physical and radiological examination and detection of mutations in the SF3B4 gene. Due to the diversity of defects associated with Nager syndrome, patients require multidisciplinary, complex, and long-lasting treatment. Usually, it starts from birth until the age of twenty years. The surgical procedures vary over a patient's lifetime and are related to the needed function. First, breathing and feeding must be facilitated; then, oral and facial clefts should be addressed, followed by correcting eyelid deformities and cheekbone reconstruction. In later age, a surgery of the nose and external ear is performed. Speech and hearing disorders require specialized logopedic treatment. A defect of the thumb is treated by transplanting a tendon and muscle or transferring the position of the index finger. In addition to surgery, in order to maximize a patient's benefit and to reduce functional insufficiency, complementary treatments such as rehabilitation and physiotherapy are recommended. In our study, we describe eight patients of different ages with various cases of Nager syndrome. The aim of our work was to present the actual genetic knowledge on this disease and its treatment procedures.

[Progress of diagnosis and treatment of upper respiratory obstruction in patients with Treacher Collins syndrome].

OBJECTIVE: To summarize the progress of diagnosis and treatment of upper respiratory obstruction in patients with Treacher Collins syndrome (TCS). METHODS: The domestic and abroad literature about the diagnosis and treatment of upper respiratory obstruction in patients with TCS was extensively reviewed and analyzed. RESULTS: TCS is an autosomal-dominant craniofacial developmental syndrome. It is often accompanied by midface and/or mandibular hypoplasia, soft tissue hypertrophy, and other respiratory tissue developmental abnormalities, which can lead to different degrees of upper respiratory obstruction symptoms. Respiratory obstruction in patients with TCS is affected by many factors, and the obstructive degree are different. Early detection of the causes and obstructive sites and adopted targeted treatments can relieve the symptoms of respiratory obstruction and avoid severe complications. CONCLUSION: Due to the low incidence of TCS, there is still a lack of high-quality research evidence to guide clinical treatment. Large-scale and prospective clinical studies are needed to provide new ideas for the treatment and prevention of upper respiratory obstruction.

A linguagem na Síndrome de Treacher Collins: uma análise dialógica / Language in Treacher Collins Syndrome: a dialogical analysis

RESUMO A Síndrome de Treacher Collins ou Disostose Mandibulofacial é decorrente de mutações genéticas e caracterizada por malformações craniofaciais. Crianças com essa síndrome podem apresentar dificuldades cognitivas, linguísticas e psicomotoras. São raras as publicações que discorrem sobre a complexidade de seus aspectos terapêuticos, especialmente, voltados à evolução clínica vinculada à linguagem. O presente estudo objetiva analisar o processo terapêutico voltado à oralidade de um menino com essa síndrome, considerando a natureza dialógica da linguagem. Trata-se de um estudo de caso longitudinal e prospectivo, realizado em uma clínica-escola de uma Universidade, situada no sul do Brasil, durante quatro anos, desde 2012 até 2016. Os dados foram coletados a partir de gravações semanais do paciente em interação com os seus terapeutas, sendo, também, considerados os registros arquivados em seu prontuário. Os resultados indicam que a criança apresentou evolução no que se refere à apropriação da linguagem oral. Apesar das dificuldades na produção vocal e na articulação de fonemas, decorrentes de alterações craniofaciais próprias da síndrome em questão, as atividades dialógicas estabelecidas entre o menino, seus terapeutas e sua família, propiciaram mudanças gradativas no seu posicionamento em relação ao outro e à linguagem. Inicialmente, ele fazia uso de gestos, mímicas faciais, apontamentos, os quais eram compreendidos apenas pelas pessoas que faziam parte do seu cotidiano. Atualmente, além dos recursos gestuais, ele passou a usar a oralidade para participar de práticas interativas, indicando mais autonomia para interagir com seus interlocutores.

ABSTRACT The Treacher Collins Syndrome or Mandibulofacial dysostosis is due to genetic mutations and characterized by craniofacial malformations. Children with this syndrome may present cognitive, linguistic and psychomotor difficulties. There are few publications that discuss the complexity of its therapeutic aspects, especially those focused on language clinical evolution. The present study aims to analyze a speech - language clinical work on oral language of a boy who has this syndrome, considering the dialogical nature of language. This is a longitudinal and prospective case study, carried out in a university clinic located in the south of Brazil, during four years, from 2012 to 2016. Data were collected from weekly recordings of the patient interacting with his therapists, and also from his record files. The results indicate that this child presented oral language appropriation evolution. Despite his vocal production and phonemes articulation´s difficulties, due to his craniofacial alterations that characterize this syndrome, the dialogical activities established between the child, his therapists and his family, caused gradual changes in his language use. Initially, he used gestures, facial mimics, pointing, which were understood only by people who were part of his daily life. Nowadays, he still uses gestures, but he also began to use oral language to participate in interactive practices, which indicates his autonomy to interact with other people.

Niños y adolescentes con patología orgánica: experiencias desde la clínica psicopedagógica / Children and adolescents with organic pathology: experiences from the psychopedagogical clinic

Ateneo de los residentes de Psicopedagogía del Hospital de Niños Dr Ricardo Gutiérrez, de la Ciudad de Buenos Aires, donde a partir de la práctica psicopedagógica con niños y adolescentes con patología orgánica se desarrollan cuatro ejes temáticos para describir algunas de las patologías o condiciones con las cuales se han ido encontrando en su labor cotidiana. Se relatan algunas viñetas clínicas que surgen de la experiencia en el Consultorio Interdisciplinario de Espina Bífida, con el fin de reflejar la intervención y los aportes de la psicopedagogía en ese campo. Se presenta el caso de una paciente que presentó un cuadro de Encefalitis Autoinmune por anticuerpos contra el receptor NMDAR, patología que despertó un gran interés al interior del equipo y que debido a su creciente recurrencia en los últimos tiempos, convoca a ampliar el conocimiento en ese campo, que aún se encuentra poco investigado. A continuación, se caracterizan dos patologías genéticas a través de casos de Agustín y Matías, considerando la importante incidencia de diversas condiciones genéticas en la población con la cual trabajamos. A partir de los casos clínicos seleccionados, no solo perseguimos el fin de describir y caracterizar algunos cuadros específicos, sino que a través de los mismos buscaremos plasmar los pilares fundamentales sobre los cuales asentamos nuestra mirada e intervención frente a pacientes que exigen un abordaje complejo, integral e interdisciplinario.

Treacher Collins Syndrome: A Systematic Review of Evidence-Based Treatment and Recommendations.

BACKGROUND: No reviews or guidelines are available on evidence-based treatment for the multidisciplinary approach in Treacher Collins syndrome. The authors' aim is to provide an evidence-based review of multidisciplinary treatment of Treacher Collins syndrome based on levels of evidence and supported with graded recommendations. METHODS: A systematic search was performed by means of the PubMed, Web-of-Science, Embase, and Cochrane Central databases (1985 to January of 2014). Included were clinical studies (with five or more Treacher Collins syndrome patients) related to therapy, diagnosis, or risk of concomitant diseases. Level of evidence of the selected articles was rated according to the American Society of Plastic Surgeons evidence-based clinical practice guidelines. After two panelists had reviewed each abstract separately, a consensus method was used to solve any disagreements concerning article inclusion. RESULTS: Of the 2433 identified articles, 63 studies (Level of Evidence II through V) were included. Conclusions and recommendations were extracted consecutively for the following items: upper airway; ear, hearing, and speech; the eye, eyelashes, and lacrimal system; growth, feeding, and swallowing; the nose; psychosocial factors; and craniofacial reconstruction. CONCLUSIONS: In this systematic review, current evidence for the multidisciplinary treatment of Treacher Collins syndrome is provided, recommendations for treatment are made, and a proposed algorithm for treatment is presented. Although some topics are well supported, others, especially ocular, nasal, speech, feeding, and swallowing problems, lack sufficient evidence. In addition, craniofacial surgical reconstruction lacks a sufficient level of evidence to provide a sound basis for a full treatment protocol. Despite the rarity of the syndrome, more research is needed to compare outcomes of several surgical treatments, especially in orbitozygomatic/maxillary regions.

The neural crest: a versatile organ system.

The neural crest is the name given to the strip of cells at the junction between neural and epidermal ectoderm in neurula-stage vertebrate embryos, which is later brought to the dorsal neural tube as the neural folds elevate. The neural crest is a heterogeneous and multipotent progenitor cell population whose cells undergo EMT then extensively and accurately migrate throughout the embryo. Neural crest cells contribute to nearly every organ system in the body, with derivatives of neuronal, glial, neuroendocrine, pigment, and also mesodermal lineages. This breadth of developmental capacity has led to the neural crest being termed the fourth germ layer. The neural crest has occupied a prominent place in developmental biology, due to its exaggerated migratory morphogenesis and its remarkably wide developmental potential. As such, neural crest cells have become an attractive model for developmental biologists for studying these processes. Problems in neural crest development cause a number of human syndromes and birth defects known collectively as neurocristopathies; these include Treacher Collins syndrome, Hirschsprung disease, and 22q11.2 deletion syndromes. Tumors in the neural crest lineage are also of clinical importance, including the aggressive melanoma and neuroblastoma types. These clinical aspects have drawn attention to the selection or creation of neural crest progenitor cells, particularly of human origin, for studying pathologies of the neural crest at the cellular level, and also for possible cell therapeutics. The versatility of the neural crest lends itself to interlinked research, spanning basic developmental biology, birth defect research, oncology, and stem/progenitor cell biology and therapy.

Facial dysostoses: Etiology, pathogenesis and management.

Approximately 1% of all live births exhibit a minor or major congenital anomaly. Of these approximately one-third display craniofacial abnormalities which are a significant cause of infant mortality and dramatically affect national health care budgets. To date, more than 700 distinct craniofacial syndromes have been described and in this review, we discuss the etiology, pathogenesis and management of facial dysostoses with a particular emphasis on Treacher Collins, Nager and Miller syndromes. As we continue to develop and improve medical and surgical care for the management of individual conditions, it is essential at the same time to better characterize their etiology and pathogenesis. Here we describe recent advances in our understanding of the development of facial dysostosis with a view towards early in utero identification and intervention which could minimize the manifestation of anomalies prior to birth. The ultimate management for any craniofacial anomaly however, would be prevention and we discuss this possibility in relation to facial dysostosis.

Multidisciplinary treatment approach in Treacher Collins syndrome.

Treacher Collins syndrome (TCS) is a common genetic disorder with high penetrance and phenotypic variability. First and second branchial arches are affected in TCS, resulting in craniofacial and intraoral anomalies such as: severe convex facial profile; mid-face hypoplasia; microtia; eyelid colobomas; mandibular retrognathism; cleft palate; dental hypoplasia; heterotopic teeth; maxillary transverse hypoplasia; anterior open bite; and Angle Class II molar relationship. A high incidence of caries is also a typical finding in TCS patients. Nonetheless, even simple dental restorative procedures can be challenging in this patient population due to other associated medical conditions, such as: congenital heart defects; decreased oropharyngeal airways; hearing loss; and anxiety toward treatment. These patients often require a multidisciplinary treatment approach, including: audiology; speech and language pathology; otorhinolaryngology; general dentistry; orthodontics; oral and maxillofacial surgery; and plastic and reconstructive surgeries to improve facial appearance. This paper's purpose was to present a current understanding of Treacher Collins syndrome etiology, phenotype, and current treatment approaches.

Challenges in evaluation, management and outcome of the patients with Treacher Collins Syndrome.

BACKGROUND: The challenges for management of Treacher Collins Syndrome (TCS) are the analysis of deformities and staged soft tissue and bony reconstruction. OBJECTIVE: To present clinical and radiologic findings, the evaluation methods and the concept of staged reconstruction for patients with TCS. MATERIAL AND METHOD: The authors reviewed the clinical and radiologic findings, the evaluation methods, the staged reconstruction and early surgical outcome of three patients with TCS treated at Srinagarind Hospital, between 1994 and RESULTS: One patient underwent evaluation by CT scan for planning, reconstruction of the zygoma and orbit, correction of the lower eyelid coloboma, bilateral staged ear reconstruction with costal cartilage. At the age of 8 years, he had acceptable initial outcome with planned middle ear management and staged facial reconstruction. Palatoplasties of a cleft palate were performed in two patients, CONCLUSION: TCS is a rare craniofacial deformity but poses challenges in evaluation, management and reconstructive surgery. The development of Craniofacial Center and interdisciplinary management is important for provision proper evaluation, initial management and longitudinal care, including appropriate timing for staged reconstruction of bone, ear and soft tissue reconstruction in patients with TCS. This treatment should be tailored and balanced with the functional and psychological needs of patient and his/her family. In developing countries, funding from other resources, including the not-for-profit foundations, is needed in order to increase patients' accessibility, and improve the quality of the entire treatment program.

Treacher Collins syndrome: protocol management from birth to maturity.

BACKGROUND: : Management of patients with Treacher Collins syndrome is complicated and involves multiple disciplines working in concert to achieve a common outcome. This article reviews the experience at the Australian Craniofacial Unit and describes the protocol for management. METHODS: : Fifty patients were treated during the last 30 years. The records of these patients were reviewed to establish what interventions they required and how these fit into a protocol for management. RESULTS: : The protocol for management of Treacher Collins syndrome can be divided into 3 epochs. In the first epoch from birth to age 2, airway and feeding problems were the main focus. Four patients required tracheostomy. Of these, 1 died and the others received mandibular distraction. Hearing is evaluated and addressed early. Eleven patients (23%) required repair of a cleft palate. In the second epoch (aged 2-12 y), speech therapy is critical as is a focus on integrating into the education system. During this epoch, reconstruction of the upper face was performed either with bone grafts or with vascularized bone flaps. Both required repeat bone grafts later. In the third epoch (aged 13-18 y), orthognathic surgery was performed. Revision surgery and further bone grafting were performed again at around age 18. Patients reported being generally happy with their appearance and with few exceptions were able to complete education, gain employment, and feel socially accepted. CONCLUSIONS: : Management of patients with Treacher Collins syndrome should be through a multidisciplinary protocol to achieve good results while minimizing confusion and unnecessary surgery.

Síndrome da apnéia-hipopnéia obstrutiva do sono (SAHOS) grave em paciente com síndrome de treacher-collins: relato de caso e revisão de literatura

Introdução: A síndrome de Treacher Collins é também conhecida por disostose mandibulofacial. É caracterizada por alterações dos pavilhões auriculares, hipoplasia dos ossos da face, obliqüidade antimongolóide das fendas palpebrais e fissura palatina. Em geral, os pacientes apresentam desenvolvimento e inteligência normais. Trata-se de uma malformação que envolve o primeiro e segundo arcos branquais. É uma doença de origem genética autossômica dominante tendo expressão e gravidade variáveis. Objetivos: Descrever um caso de paciente com síndrome de Treacher-Collins com apnéia-hipopnéia obstrutiva grave. Relato de caso: Paciente com 1 ano e 1 mês de vida apresentando sonolência diurna excessiva, roncos e apnéias durante o sono. Foi submetida a glossopexia com 30 dias de vida. Fez polissonografia (PSG) que evidenciou índice de apnéia-hipopnéia (IAH) de 141,2/h com saturação média de O2 de 82% e nadir de 44% (com bradicardia). Foi solicitado PSG com titulação de CPAP que evidenciou IAH = 44,4/h, saturação média de O2 de 88% e nadir de 58%. A pressão de CPAP indicada foi de 11cmH2O (máscara facial). A criança teve boa adaptação com o CPAP e evoluiu bem, com melhora cognitiva e ganho de peso. Após 1 ano de uso de CPAP, a criança fez nova PSG que evidenciou IAH de 0,4/h. Dois meses após o exame, foi realizada a liberação da glossopexia e a criança aguarda distração da mandíbula a ser realizada por volta dos 3 anos de idade. Conclusões: O CPAP mostrou ser uma opção terapêutica eficiente e pouco invasiva no tratamento de paciente sindrômico com apnéia-hipopnéia obstrutiva grave. Vale ressaltar a importância da glossopexia. A anteriorização da língua permitiu o direcionamento da pressão positiva de ar para a região de orofaringe e hipofaringe, evitando que ocorresse glossoptose e dificuldade de adaptação do CPAP.

The Rotterdam Palatal Distractor: introduction of the new bone-borne device and report of the pilot study.

Transverse maxillary hypoplasia, in adolescents and adults, is frequently seen as an acquired deformity and in congenital deformities patients and can be corrected by means of surgically assisted rapid maxillary expansion. Traditionally, the distractors for expansion are tooth-borne devices, i.e. hyrax appliances, which may have some serious disadvantages such as tooth tipping, cortical fenestration, skeletal relapse and loss of anchorage. In contrast, with bone-borne distractors most of the maxillary expansion is orthopedic and at a more mechanically desired level with less dental side effects. A new bone-borne palatal distractor has been developed. By activation the nails of the abutments plates automatically stabilizes the device and no screw fixation is necessary anymore. This new distractor is presented and the data of five acquired deformity and eight congenital deformity patients that were treated with this distractor are reported.

Fisioterapia na síndrome de Treacher-Collins / Physiotherapy in Treacher-Collins syndrome

A síndrome de Treacher-Collins é uma enfermidade congênita, que além das alteraçöes a nível de face, ocasiona comprometimentos motores, no que se refere ao seu desenvolvimento. Este trabalho procura retratar a importância do tratamento fisioterápico nos pacientes portadores desta malformaçäo

[Treatment of syndromes with abnormalities of the face]. / Behandeling van syndromen met afwijkingen in het gelaat.

A standard method of treating syndromes with anomalies in the face does not exist. Not only are the differences between the symptoms of different syndromes very important. Also within one syndrome variations can be marked. A team of specialists supports the cranio-facial surgeon in his central role when treating these patients. Type of treatment, sequence, timing, et cetera, follow certain rules, which may be in part the same as for the treatment of 'ordinary' maxillo-mandibular disharmonies, but sometimes differ significantly from it. The most important aspects of treatment of three rather frequently seen cranio-facial syndromes are given. Incidence, symptoms, therapeutical possibilities and timing, and results are discussed as well as the necessity of this kind of surgery.

Sindrome de Treacher Collins ou sindrome de Franceschetti-Klein ou disostose mandibulo-facial / Treacher Collins syndrome or Franceschetti-Klein syndrome or mandibulofacial dysostosis

O autor discute as manifestacoes clinicas, o diagnostico e o tratamento da Sindrome de Treacher Collins

The early management of baby with Hallermann-Steriff-Francois Syndrome.

The importance of early management of sight in a baby with Hallermann-Streiff-Francois syndrome is described. Surgery for bilateral cataract was performed. Special postcataract contact lenses were fitted.