Diagnosis and treatment of speech disorders in children with Moebius syndrome.

BACKGROUND: Moebius syndrome (MS) is characterized by congenital bilateral paralysis of the facial and abducens nerves. Clinical features include feeding problems, dysarthria, dysphagia, sialorrhea, strabismus, and lack of facial expression. Patients with MS frequently present with dysphagia during infancy. Further on during childhood a severe speech disorder is a common feature. However, articulation deficits in patients with MS are scarcely reported in the related scientific literature. OBJECTIVE: The aim of this study is to describe speech deviations, intelligibility and sialorrhea in patients with MS. MATERIAL AND METHODS: Eighty-seven patients with MS were prospectively studied. Age ranged from 4 to 18 years. A complete Speech and Language Pathology (SLP) evaluation was performed in all cases. The evaluation focused on articulation placement, sialorrhea and intelligibility of speech. RESULTS: Sialorrhea was detected in 23% of the patients. Abnormal articulation placement of bilabial phonemes was observed in 68% of the patients. Another 50% of the patients presented with articulation placement errors in other phonemes. Intelligibility was classified as adequate in 18% of the cases. Mildly affected intelligibility was found in 51% of the patients. Speech was considered moderately unintelligible in 20% of the cases. Unintelligible speech was found in 11% of the patients. CONCLUSIONS: From the results of this prospective study it can be concluded that a high percentage of patients with MS are at high risk of presenting with moderate to severe speech disorders. Thus, an early SLP intervention should be provided for this population in order to enhance speech development and reducing the risk of severe oral communication impairments.

Manejo de la vía aérea en el neonato con síndrome de Moebius / Airway management in the neonate with Moebius syndrome

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Divergent roles of Plexin D1 in cancer.

Plexin D1 belongs to a family of transmembrane proteins called plexins. It was characterized as a receptor for semaphorins and is known to be essential for axonal guidance and vascular patterning. Mutations in Plexin D1 have been implicated in pathologic conditions such as truncus arteriosus and Möbius syndrome. Emerging data show that expression of Plexin D1 is deregulated in several cancers; it can support tumor development by aiding in tumor metastasis and EMT; and conversely, it can act as a dependence receptor and stimulate cell death in the absence of its canonical ligand, semaphorin 3E. The role of Plexin D1 in tumor development and progression is thereby garnering research interest for its potential as a biomarker and as a therapeutic target. In this review, we describe its discovery, structure, mutations, role(s) in cancer, and therapeutic potential.

Enhancing surgical outcomes: The effects of speech therapy on a school-aged girl with Moebius Syndrome.

PURPOSE: Moebius Syndrome is a rare congenital neurological condition often characterized by multiple cranial nerve involvement. This case study presents an eight-year old girl with Moebius Syndrome (MC) who received 30 sessions of speech therapy. This occurred after presenting to clinic 11 months after left facial reanimation with gracilis thigh muscle transfer surgery. On examination, only flickers of left facial movement were observed. There was no movement on the right side of the face. As a consequence of the minimal movement, MC presented with drooling and unintelligible speech. The purpose of speech therapy was three fold: minimise the pooling of saliva, improve the placement of the articulators so that articulation of speech sounds would be more accurate, and gain advances in overall intelligibility. METHODS: Therapy focussed on speech, facial movement and saliva management using a combination of speech drills, evidence-based articulation therapies, facial exercises with surface electromyography biofeedback, self-awareness training and compensatory saliva management strategies. RESULTS: After a course of 30 one-hour speech therapy sessions, substantial improvements were seen in speech sound accuracy, overall intelligibility, facial movement and saliva control. CONCLUSIONS: The combination of surgery and speech therapy led to functional gains that surgery alone did not achieve. The impact of speech therapy on surgical outcomes in individuals with Moebius syndrome deserves further investigation.

Moebius syndrome: clinical features, diagnosis, management and early intervention.

BACKGROUND: Moebius syndrome (MBS) is rare disease characterized by nonprogressive congenital uni- or bi-lateral facial (i. e. VII cranial nerve) and abducens (i. e. VI cranial nerve) palsy. Although the neurological and ophthalmological findings are quite well-known, data concerning the attendant functional difficulties and their changes over time are seldom addressed. In this study we attempt to estimate the prevalence of clinical and functional data in an Italian cohort affected by MBS. METHODS: The study included 50 children, 21 males and 29 females, aged 1 month to 14 years. The patients entered into a multidisciplinary diagnostic and follow-up protocol that had the specific purpose of detecting clinical and developmental deficits related to MBS. RESULTS: Involvement of the VII cranial nerve (total/partial, bilateral or unilateral) was present in 96 % of patients, and of the VI nerve in 85 %. Two patients were without impairment of the VII nerve and seven patients had no involvement of the VI nerve and were thus classified as Moebius-like because of the involvement of other CNs. Additional affected CNs were numbers III-IV in 16 %, V in 11 %, VIII and X each in 8 %, the XI in 6 %, the IX, most often partially, in 22 %, and the XII in 48 % of cases. Their development was characterized by global delay at one year of age, motor, emotional and speech difficulties at two years of age, a trend toward normalization at three years of age but with weakness in hand-eye coordination, and achieving average results at five years of age. Overall 90 % of children had a normal developmental quotient whereas only 10 % manifested cognitive deficits. CONCLUSION: Early rehabilitation may enhance the recovery of normal function, particularly in vulnerable areas of development. It is possible that early intervention that integrates sensory and visual information with emotional difficulties can improve the prognosis of the child with MBS.

Managing the child with a diagnosis of Moebius syndrome: more than meets the eye.

Moebius syndrome (MBS) is a congenital, non-progressive facial and abducens nerve palsy in the presence of full vertical gaze and may be associated with limb abnormalities and craniofacial dysmorphisms. MBS is now defined as a disorder of rhombencephalic maldevelopment and recent gene discoveries have shown this to be a dominant disorder in a subset of patients. Accurate diagnosis and management by a multidisciplinary team with expertise in congenital facial palsy is paramount.

Tratamientos ortopédicos y ortodóncicos de pacientes con síndromes poco comunes: protocolo / Orthopedic and orthodontic treatments of patients with unusual syndromes: a protocol

Son muchos los síndromes que manifiestan alteraciones dento-esqueletales y, a su vez, manifiestan diferentes complicaciones, no permitiendo tener un protocolo definido para cada síndrome. Para establecer un adecuado protocolo de tratamiento, basado en tratamientos realizados exitosamente y tomando en cuenta los fracasos para no incurrir en el mismo error, se hizo una revisión bibliográfica desdemayo hasta septiembre de 2012, de artículos publicados en los últimos diez (10) años, de revistas internacionales de ortodoncia, ortopedia y cirugía maxilofacial que registraban estudios de investigación y casuística, en buscadores científicos como PubMed, Scielo, Medline. Posteriormente, se tomó la clasificación de Kenneth Lyons Jones, MD, en su obra literaria Patrones Reconocibles de Malformaciones Humanas (2007), tomando en cuenta para la elaboración de este trabajo, los que presentan craneosinostosis, defectos faciales mayores y defectos faciales y de las extremidades como características mayores, que ameritan tratamiento para corregir problemas dento-esqueletales. De los 39 artículos se seleccionaron 11 que tenían relevancia con su tema. Conocer y describir todos los síndromes, mencionando cada característica, es de suma importancia para los profesionales de la salud, ya que de ellos depende no sólo el correcto diagnóstico, sino el tratamiento más adecuado...

A novel patient-controlled bidirectional palatal lift appliance.

OBJECTIVE: Palatal lift appliances have a role in management of velopharyngeal dysfunction for immobile palates of adequate length where surgery is contraindicated. Conventional appliances involve acrylic/wire work adjustment over successive appointments until they can be tolerated without gagging. A novel appliance has been developed where the lifting plate is incrementally distalized by the patient and vertically adjusted to optimize soft palate positioning. METHOD: The design, construction, and utility of the appliance, which was developed in Dundee Dental Hospital, are described. PARTICIPANTS: The subject was a 12-year-old boy with a variant of Moebius syndrome and velopharyngeal dysfunction. Previous pharyngoplasty had been carried out and further surgery was contraindicated. INTERVENTIONS: The appliance is constructed and fitted and the flexible spring arm is vertically adjusted to lift the soft palate. The screw is turned incrementally at home, extending the lifting plate posteriorly. Videofluoroscopy allows visualization of the appliance and soft palate positioning. MAIN OUTCOME MEASURES/RESULTS: The procedure improved soft palate positioning, as demonstrated by videofluoroscopy, and objective speech outcomes. CONCLUSIONS: The appliance was well tolerated and led to improved speech outcomes for the patient. Adjustments were quick and easy for both clinician and patient. Further studies are needed to definitively determine the efficacy of the appliance.

Clinical characteristics and outcomes of Möbius syndrome in a children's hospital.

BACKGROUND: Möbius syndrome is a congenital disorder with facial and abducens palsy. Although a few case series studies have examined comorbid conditions in Möbius syndrome, follow-up and outcome data are sparse. OBJECTIVES: To examine the clinical characteristics and outcomes of Möbius syndrome. METHODS: Clinical data were reviewed for 10 patients. Neonatal history, neurological examination, comorbid anomalies, medical home care, outcomes, and neuroimaging were summarized. RESULTS: The patients' mean age was 7.3 ± 6.2 years. On neurological examination, absent blink reflex, jaw ankylosis, absent gag reflex, and tongue atrophy were frequently observed. Poland anomaly and clubfoot were present in three and six patients, respectively. Specific therapies required for patients included medical home care (six patients), suction apparatus (six), tube feeding (five), gastrostomy (two), tracheostomy (three), oxygen therapy (three), and home ventilator (two). Punctate calcification in the brainstem was observed in four patients. Pontine and medulla hypoplasia were detected on the basis of anteroposterior diameter in four and seven patients, respectively. Two patients had congenital hydrocephalus with aqueductal stenosis. Global developmental delay occurred in five patients. Three patients died. CONCLUSION: The rate of both the use of home medical devices and death was high in our patients. Möbius syndrome is extremely diverse, not only in clinical manifestation, but also outcome. Early multidisciplinary intervention is important to ensure an optimal outcome. Aqueductal stenosis is an occasional comorbid anomaly resulting from midbrain abnormality.

Brainstem dysgenesis during the neonatal period: diagnosis and management.

AIMS: To report our neonatal management experience in patients who received a diagnosis of brainstem dysgenesis (BSD). PATIENTS AND METHODS: This study retrospectively reviewed the medical records of 15 neonates with BSD diagnosed between 1984 and 2011. Data on the perinatal period, physical examination, laboratory findings, and management by systems were systematically analyzed. RESULTS: All cases were sporadic. Cocaine abuse and misoprostol use were recorded in two pregnancies. The reason for admission was prematurity (2 of 15), respiratory distress (8 of 15), gastroschisis (1 of 15), and abnormal neurological examination (4 of 15). Clinically, the most commonly affected cranial nerves were the 7th (13 of 15), 9th (11 of 15), 10th (8 of 15), 5th (7 of 15), 12th (7 of 15), 6th (3 of 15), 4th (1 of 15), and 3rd (1 of 15). Five patients required positive pressure ventilation during delivery room resuscitation, three had difficult airways, and two needed tracheostomy during admission. Most patients required nasogastric tube feeding shortly after birth, and four patients had a gastrostomy on discharge. Two patients died of respiratory and cardiac failure. Electromyography and nerve conduction velocity were used to exclude generalized neuromuscular disorders, and in conjunction with other neurophysiological and gastrointestinal tract studies, helped uncover the extent of brainstem involvement in most cases. Cranial magnetic resonance imaging supported the diagnosis in more than half of the patients. CONCLUSIONS: Early diagnosis of BSD is mainly clinical, difficult to establish unless suspected, and crucial to prevent complications. Neonatal care of patients with BSD requires a comprehensive approach that must take into consideration the etiological, anatomical, and pathogenic aspects contributing to the clinical manifestations of this disorder. Care should be provided by multidisciplinary teams, in which neonatologists, pediatric neurologists, nutritionists, physical therapists, and other professionals participate, depending on the associated morbidity in order to improve its management and prognosis.

[Moebius syndrome with facial-dental impairments - rare or rather seldom diagnosed syndrome?]. / Zespól Moebiusa Z Zaburzeniamitwarzowo"zebowymi. Zespól Rzadkowystepujacy, Czy Rzadko Rozpoznawany?

As publications on craniofacial anomalies, malocclusions and dental complications recognised in patients suffering from Moebius syndrome are scarce, the authors of this paper decided to discuss the above aspects in broader terms along with the possibilities offered by orthodontic treatment. The etiology of Moebius syndrome has not hitherto been discovered, however the opinion prevails that it is brought on by multiple factors and conditions. In the analysed case, Moebius syndrome was diagnosed only when the patient was 6 years old. Based on the clinical examination, typical characteristics of the syndrome were observed: craniofacial dysmorphism as well as foot development disorder in the form of talipes equinovarus (club foot). Moreover, Type II Angle's classification of malocclusion was detected - crowded teeth in the mandible and maxilla and hypoplastic enamel. Cephalometric analysis identified retruded position of the mandible against the cranial base, protruded position of the maxilla, shortening of posterior face height, protrusion of incisors in the maxilla. The orthopantomogram showed the presence of all permanent teeth. At the beginning of the orthodontic treatment removable appliances were used, but despite good cooperation on the part of the patient, only a slight improvement was observed. Further orthodontic treatment envisaged extraction of permanent teeth and use of fixed appliances while waiting for the improvement of occlusion.

[Möbius syndrome]. / Le syndrome de Möbius.

Möbius syndrome is a rare congenital disease characterized by facial and abducens nerve palsy. Children are unable to smile, frown, suck, grimace, blink their eyes, and to move their eyes laterally. The aim of this study was to analyze the diagnosis and treatment of this disease. Maxillofacial examination reveals: facial diplegia, retrognathism, palatine and dental malformations. Möbius syndrome is usually associated with multiple cranial nerve involvement, limb or orofacial malformation, and Poland syndrome. Although the pathogenesis of the syndrome is unclear, a number of mechanisms have been suggested including vascular and genetic hypotheses. Symptomatic treatment is used to manage this syndrome. The diagnosis of Möbius syndrome may be difficult in some patients with atypical signs of facial diplegia and other cranial nerve palsies, it requires a multidisciplinary approach.

The faces of Moebius syndrome: recognition and anticipatory guidance.

Moebius syndrome is a rare congenital disorder characterized mainly by the inability to move the eyes laterally or produce facial expressions such as smiling. Moebius syndrome creates physical problems for the affected individual that may, in some cases, lead to emotional or social adjustment issues, yet the syndrome is relatively unknown among healthcare professionals. Because early recognition of Moebius syndrome can lead to early diagnosis and treatment, education of nurses in perinatal, pediatric, midwifery, and neonatal specialties is crucial. Through early recognition, maternal-child nurses can offer anticipatory guidance and provide or recommend resources to parents of children with this neurological condition.

[Congenital cranial dysinnervation disorders]. / Angeborene Fehlinnervationssyndrome.

Congenital cranial dysinnervation disorders (CCDDs) are responsible for 1-2% of infant strabismus cases. Insufficient innervation and misinnervation of aberrant nerve fibres lead to motility restrictions and synkinesis. We present the most common CCDDs and explain their pathogenesis and the resulting clinical features. Furthermore, we emphasize essential diagnostic steps and treatment aspects.

[Möbius sequence: long-term strabismus surgical outcome]. / Seqüência de Möbius: resultados a longo prazo, da correção cirúrgica do estrabismo.

PURPOSE: To analyze the long-term results in a consecutive series of Möbius sequence patients, who underwent surgical correction of strabismus. METHODS: Ten patients with Möbius sequence fulfilled the inclusion criteria of this study. All patients presented esotropia at the preoperative examination, above or equal to 15 prismatic diopters (DP) varying from 15 to 85. All patients presented lateral rectus muscles severe underaction, six presented hipertropia above or equal 10 DP associated with esodeviation, and five presented anisotropia in A or in V. The patients were operated upon protocol, in a consecutive way, in July 2002. Patients were reexamined periodically, and at 2nd postoperative year as for: the visual acuity; deviation measurements; ocular rotations; cosmetic aspect and socialization. RESULTS: The patients presented satisfactory surgical results in eight cases, considering an eso or exodeviation up to 15 DP and a hipertropia lower than 10 DP. Four (40%) patients presented correction of the preoperative anisotropia. Variation of ocular deviation in the primary position (from the 90th day to the 2nd postoperative year was observed) in 9 patients (90%), demonstrating that strabismus surgical stabilization needs time. CONCLUSIONS: The surgical results were considered satisfactory, improving patient self-esteem and the parent satisfaction, making the social inclusion easier.

Seqüência de Möbius: resultados a longo prazo, da correção cirúrgica do estrabismo / Mõbius sequence: long-term strabismus surgical outcome

OBJETIVOS: Analisar os resultados cirúrgicos, a longo prazo, em uma série consecutiva de pacientes com a seqüência de Mõbius, submetidos à correção cirúrgica do estrabismo. MÉTODOS: Dez portadores da seqüência de Mõbius atenderam aos critérios de inclusão. Todos apresentaram esotropia no exame pré-operatório maior ou igual a 15 dioptrias prismáticas (DP), variando de 15 a 85. Todos os pacientes demonstraram hipofunção dos músculos retos laterais, seis, apresentaram hipertropia associada maior ou igual que 10 DP e, cinco, anisotropia em A ou em V. Os pacientes foram submetidos de forma consecutiva à cirurgia para a correção do estrabismo em julho de 2002, de acordo com protocolo previamente elaborado. Todos os casos foram reavaliados periodicamente, analisando-se o resultado visual final no segundo ano pós-operatório, quanto a: acuidade visual, desvio ocular, rotações oculares, estética e socialização. RESULTADOS: Os pacientes apresentaram resultado cirúrgico satisfatório final em oito casos, considerando-se um eso ou exo desvio de até 15 DP e uma hipertropia menor que 10 DP. Quatro (40 por cento) pacientes apresentaram correção da anisotropia pré-operatória. Observou-se variação do desvio ocular em posição primária do olhar (entre o 90° dia e o 2° ano pós-operatório) em 9 pacientes (90 por cento), demonstrando que a estabilização da correção cirúrgica do estrabismo requer tempo. CONCLUSÕES: O resultado cirúrgico final mostrou-se bastante satisfatório, elevando a auto-estima dos pacientes e a de seus genitores, facilitando a sua inclusão social.

PURPOSE: To analyze the long-term results in a consecutive series of Mõbius sequence patients, who underwent surgical correction of strabismus. METHODS: Ten patients with Mõbius sequence fulfilled the inclusion criteria of this study. All patients presented esotropia at the preoperative examination, above or equal to 15 prismatic diopters (DP) varying from 15 to 85. All patients presented lateral rectus muscles severe underaction, six presented hipertropia above or equal 10 DP associated with esodeviation, and five presented anisotropia in A or in V. The patients were operated upon protocol, in a consecutive way, in July 2002. Patients were reexamined periodically, and at 2nd postoperative year as for: the visual acuity; deviation measurements; ocular rotations; cosmetic aspect and socialization. RESULTS: The patients presented satisfactory surgical results in eight cases, considering an eso or exodeviation up to 15 DP and a hipertropia lower than 10 DP. Four (40 percent) patients presented correction of the preoperative anisotropia. Variation of ocular deviation in the primary position (from the 90th day to the 2nd postoperative year was observed) in 9 patients (90 percent), demonstrating that strabismus surgical stabilization needs time. CONCLUSIONS: The surgical results were considered satisfactory, improving patient self-esteem and the parent satisfaction, making the social inclusion easier.

Eficácia da intervenção cognitivo-comportamental em um caso diagnosticado com a síndrome de moébius / The value of cognitive-behavioral intervention in a moebius syndrome case

Este trabalho teve como objetivo compreender os processos psicológicos decorrentes da Síndrome de Moébius, por meio da avaliação e da intervenção cognitivo-comportamental. Foi sujeito do estudo uma adolescente do sexo feminino, 13 anos e 8 meses de idade, com a queixa de agressividade e inadaptação nas interações familiares e sociais. A terapêutica psicológica foi composta por quatro fases: identificação do problema, análise funcional, seleção dos procedimentos interventivos e reavaliação. As sessões terapêuticas centraram-se na identificação de pensamentos e cognições disfuncionais produtoras de sentimentos e comportamentos mal-adaptativos, seguida da automonitoração e reatribuição das interpretações sobre as pessoas assim como sobre eventos desencadeadores do conflito. As características sintomáticas e os aspectos evolutivos da síndrome foram explorados em níveis da prática clínica, cuja abordagem técnica empregada na compreensão do fenômeno permitiu a reorganização do auto-conceito, reestruturação cognitiva do papel dos familiares e das interações com os seus pares. Desta forma, os procedimentos adotados permitiram a elaboração de recursos pessoais, identificação de valores e capacidades importantes para o relacionamento no contexto e na promoção de comportamentos mais assertivos.(AU)

This study aimed at understanding the psychological processes in Moebius Syndrome by means of cognitive-behavioral evaluation and intervention. The subject of the study was a 13-year-and-8-months-old female adolescent reporting agressiveness and difficult adjustment in social and family interactions. The psychological therapy was divided in four phases: problem identification, functional analysis, selection of the intervention procedures, and re-evaluation. Therapy focused on the identification of dysfunctional thoughts and cognitions that produce maladjusted feelings and behaviors, followed by the self-monitoring and reattribution of interpretations about people and events seen as sources of the conflict. Symptoms characteristics and evolving aspects of the syndrome were explored in the clinical practice whose theoretical approach employed to understand the phenomenon allowed to reorganize the selfconcept, the cognitive reestructuring of family role and peers interactions. Thus, the procedures adopted allowed the elaboration of personal resources, the identification of values and abilities important for the relationship in the context as well as in the promotion of more assertive behaviors.(AU)