Dysphagia in Rett Syndrome: A Descriptive Study

2017 ◽  
Vol 126 (9) ◽  
pp. 640-645 ◽  
Author(s):  
Chiara Mezzedimi ◽  
Walter Livi ◽  
Claudio De Felice ◽  
Serena Cocca
Keyword(s):  
Rett Syndrome ◽  
Neurodevelopmental Disorder ◽  
Descriptive Study ◽  
Speech Evaluation ◽  
Swallowing Problems ◽  
Tongue Movements ◽  
History Of ◽  
Oral Stage ◽  
Endoscopic Assessment ◽  
Fatal Complications

Objectives: Rett syndrome (RS) is a neurodevelopmental disorder and the second major cause of mental retardation in females. The aim of this study was to evaluate swallowing problems of RS patients by endoscopic assessment and compile a list of suggestions for managing feeding and preventing complications. Methods: The sample consisted of 61 female patients (mean age = 13.6 years, range, 2-33 years) admitted to the Department of Neuropsychiatry, where they had previously been diagnosed with RS. Speech evaluation associated with observation during mealtimes was useful to formulate suggestions for caregivers. Results: Progressive deterioration of feeding was commonly noted by caregivers. Fifty-four patients had a history of recurrent episodes of bronchitis. Oral apraxia, dyskinetic tongue movements, prolonged oral stage, and poor bolus formation were the most common findings in all patients. Conclusions: Dysphagia was primarily limited to oral preparatory phases, while the pharyngeal phase was normal in most patients. The high percentage of dysphagia suggests the need to accurately monitor the feeding capability of RS children. It is critical to correctly inform caregivers about safe swallowing procedures to reduce the incidence of fatal complications.

scholarly journals Rett Syndrome in Males: The Different Clinical Course in Two Brothers with the Same Microduplication MECP2 Xq28

2019 ◽  
Vol 16 (17) ◽  
pp. 3075
Author(s):  
Maria Bernarda Pitzianti ◽  
Angelo Santamaria Palombo ◽  
Susanna Esposito ◽  
Augusto Pasini
Keyword(s):  
Rett Syndrome ◽  
Genetic Basis ◽  
Normal Development ◽  
Clinical Course ◽  
Neurodevelopmental Disorder ◽  
Dominant Inheritance ◽  
Clinical Form ◽  
Inactivation Pattern ◽  
History Of

Rett syndrome (RTT) is a neurodevelopmental disorder with a genetic basis that is associated with the mutation of the X-linked methyl-CpG binding protein 2 (MECP2) gene in approximately 90% of patients. RTT is characterized by a brief period of normal development followed by loss of acquired skills and evolution towards impairment of brain and motor functions and multi-organ dysfunction. Originally, RTT was considered lethal in males as it has an X-linked dominant inheritance. However, although this syndrome has a higher incidence in females, rare cases are also documented in males. Here, we describe the case of an 11-year-old male patient with a microduplication MECP2 Xq28. Our patient is currently living, while his older brother with the same mutation died at the age of 9 years. We showed that the role of MECP2 as an epigenetic modulator and the X-chromosome inactivation pattern can explain the lethal clinical form of the older brother with the same microduplication MECP2 Xq28 presented by our patient who is still alive. Given the limited case history of RTT in males, further studies are needed to better characterize this syndrome in males and consequently improve the currently available therapeutic strategies.

scholarly journals Rett Syndrome: A Case Report

1970 ◽  
Vol 28 (1) ◽  
pp. 20-22
Author(s):  
MR Pathak ◽  
A Neopane
Keyword(s):  
Rett Syndrome ◽  
Speech Therapy ◽  
Neurodevelopmental Disorder ◽  
Mecp2 Gene ◽  
Dominant Inheritance ◽  
Pharmacological Agents ◽  
Developmental Regression ◽  
History Of ◽  
Social Interaction Skills ◽  
Key Words Rett Syndrome

Rett Syndrome (RS) is a neurodevelopmental disorder in which girls are predominantly affected, transmitted as an X linked dominant inheritance and caused by mutation in MECP2 gene. The basic presentation in RS is regression of previously acquired developmental milestones, lack of social interaction skills and acquired microcephaly after a certain age, which starts in early months of infancy. It is frequently misdiagnosed as autism, cerebral palsy or nonspecific developmental delay and is relatively frequent cause of delayed development in girls. Diagnosis is mainly clinical after excluding the neurodegenerative and other causes of delayed milestones. The chromosomal analysis, confirmatory tool for diagnosis is available in limited centers. The treatment is mainly speech therapy and counseling though few pharmacological agents have been tried with little response. A ten years age girl presented with the history of seizures, regression of speech and delayed motor milestones in our out patient clinic which was subsequently diagnosed as Rett Syndrome. Key Words: Rett syndrome, Developmental Regression, X Linked Dominant.    DOI = 10.3126/jnps.v28i1.1402   J. Nepal Paediatr. Soc. Vol.28(1) p.20-22

scholarly journals Giant Fibrovascular Polyp as an Unusual Cause of Globus Pharyngeus

2021 ◽  
pp. 014556132110039
Author(s):  
Jelena Sotirović ◽  
Ljubomir Pavićević ◽  
Stanko Petrović ◽  
Saša Ristić ◽  
Aleksandar Perić
Keyword(s):  
Differential Diagnosis ◽  
Asymptomatic Patient ◽  
Histopathological Examination ◽  
Complete Resection ◽  
Airway Compromise ◽  
Endoscopic Removal ◽  
Globus Sensation ◽  
Fibrovascular Polyp ◽  
History Of ◽  
Fatal Complications

Differential diagnosis of globus sensation in an otherwise asymptomatic patient should include hypopharyngeal fibrovascular polyp to avoid potentially fatal complications like airway compromise following regurgitation. We present a case of a 74-year-old man with a 13-cm long hypopharyngeal fibrovascular polyp with 9 months history of globus sensation. A narrow stalk of the giant polyp allowed endoscopic removal and complete resection with the CO2 laser. Histopathological examination was conclusive for the fibrovascular polyp.

scholarly journals Familial congenital heart disease in Bandung, Indonesia

2013 ◽  
Vol 53 (3) ◽  
pp. 173
Author(s):  
Sri Endah Rahayuningsih
Keyword(s):  
Congenital Heart Disease ◽  
Heart Disease ◽  
Dilated Cardiomyopathy ◽  
Congenital Heart ◽  
Family Studies ◽  
Recurrence Risk ◽  
Descriptive Study ◽  
Pedigree Analysis ◽  
Tricuspid Atresia ◽  
History Of

Background Congenital heart disease (CHD) may occur inseveral members of a family. Studies have shown that familialgenetic factor play a role in CHD.Objective To identify familial recurrences of CHD in familieswith at least one member treated for CHD in Dr. Hasan SadikinHospital, Bandung Indonesia.Methods In this descriptive study, subjects were CHD patientshospitalized or treated from January 2005 to December 2011. Weconstructed family pedigrees for five families.Results During the study period, there were 1,779 patients withCHD. We found 5 families with 12 familial CHD cases, consistingof 8 boys and 4 girls. Defects observed in these 12 patients weretetralogy of Fallot, transposition of the great arteries, persistentductus arteriosus, ventricular septa! defect, tricuspid atresia,pulmonary stenos is, and dilated cardiomyopathy. Persistent ductusarteriosus was the most frequently observed defect (4 out of 12subjects) . None of the families had a history of consanguinity. Therecurrence risk of CHD among siblings was calculated to be 0.67%,and the recurrence risk ofCHD among cousins was 0.16%.Conclusion Familial CHD may indicate the need for geneticcounseling and further pedigree analysis.

scholarly journals Speech Outcomes after Tonsillectomy in Patients with Known Velopharyngeal Insufficiency

2012 ◽  
Vol 2012 ◽  
pp. 1-4 ◽  
Author(s):  
L. M. Paulson ◽  
C. J. MacArthur ◽  
K. B. Beaulieu ◽  
J. H. Brockman ◽  
H. A. Milczuk
Keyword(s):  
Obstructive Sleep Apnea ◽  
Sleep Apnea ◽  
Cleft Palate ◽  
Speech Intelligibility ◽  
Velopharyngeal Insufficiency ◽  
Speech Evaluation ◽  
Obstructive Sleep ◽  
Significant Difference ◽  
Before And After ◽  
History Of

Introduction. Controversy exists over whether tonsillectomy will affect speech in patients with known velopharyngeal insufficiency (VPI), particularly in those with cleft palate.Methods. All patients seen at the OHSU Doernbecher Children's Hospital VPI clinic between 1997 and 2010 with VPI who underwent tonsillectomy were reviewed. Speech parameters were assessed before and after tonsillectomy. Wilcoxon rank-sum testing was used to evaluate for significance.Results. A total of 46 patients with VPI underwent tonsillectomy during this period. Twenty-three had pre- and postoperative speech evaluation sufficient for analysis. The majority (87%) had a history of cleft palate. Indications for tonsillectomy included obstructive sleep apnea in 11 (48%) and staged tonsillectomy prior to pharyngoplasty in 10 (43%). There was no significant difference between pre- and postoperative speech intelligibility or velopharyngeal competency in this population.Conclusion. In this study, tonsillectomy in patients with VPI did not significantly alter speech intelligibility or velopharyngeal competence.

scholarly journals Subcutaneous Emphysema Secondary to Tonsillectomy

2015 ◽  
Vol 7 (2) ◽  
pp. 78-80
Author(s):  
Vivek Sasindran ◽  
Vijay Stephen ◽  
Lakshana Deve
Keyword(s):  
Case Report ◽  
Surgical Procedures ◽  
Subcutaneous Emphysema ◽  
Subcutaneous Tissue ◽  
Rare Complication ◽  
Tension Pneumothorax ◽  
Tonsillar Fossa ◽  
Superior Constrictor ◽  
History Of ◽  
Fatal Complications

ABSTRACT Background Tonsillectomy is one of the most common surgical procedures performed worldwide. However, it can potentially be associated with several complications. One of the very rare complications post-tonsillectomy in adults is subcutaneous emphysema, as in our case here. Although, most reported cases are resolved spontaneously, it may lead to fatal complications, like tension pneumothorax. Case report Tonsillectomy was performed on an adult patient with history of frequent tonsillitis. The patient developed facial subcutaneous emphysema 48 hours after the surgery (evident by clinical and radiological examination) that resolved within 2 days without further complications. Conclusion Tonsil should be removed along with tonsilar capsule. If tonsillectomy causes deeper than usual mucosal tear up to the level of the muscles, then air might pass into the subcutaneous tissue through the tonsillar fossa and superior constrictor muscle into fascial layers of neck. Emphysema can then spread to parapharyngeal, retropharyngeal spaces and mediastinum with its related morbidity. Though a rare complication, all otorhinolaryngologists must be aware of this complication and its management. How to cite this article Abraham SS, Stephen V, Deve L, Kurien M. Subcutaneous Emphysema Secondary to Tonsillectomy. Int J Otorhinolaryngol Clin 2015;7(2):78-80.

scholarly journals Clinical and laboratory findings of Plasmodium vivax malaria in Colombia, 2001

2003 ◽  
Vol 45 (1) ◽  
pp. 29-34 ◽  
Author(s):  
Marcela Echeverri ◽  
Alberto Tobón ◽  
Gonzalo Álvarez ◽  
Jaime Carmona ◽  
Silvia Blair
Keyword(s):  
Plasmodium Vivax ◽  
Vivax Malaria ◽  
Serum Bilirubin ◽  
Descriptive Study ◽  
Laboratory Findings ◽  
Plasmodium Vivax Malaria ◽  
History Of ◽  
The Mean ◽  
Spleen Enlargement ◽  
Cell Profile

A descriptive study was carried out in 104 patients with Plasmodium vivax malaria, from the region of Turbo (Antioquia, Colombia). Clinical features and levels of hemoglobin, glycemia, serum bilirubin, alanine-aminotransferase (ALT), aspartate-aminotransferase (AST), creatinine and complete blood cell profile were established. 65% of the studied individuals were men and their mean age was 23. Of all individuals 59% had lived in the region for > 1 year and 91% were resident in the rural area. 42% were farmers and 35% had a history of malaria. The mean parasitaemia was 5865 parasites/mm³. The evolution of the disease was short (average of 4.0 days). Fever, headache and chills were observed simultaneously in 91% of the cases while the most frequent signs were palmar pallor (46%), jaundice (15%), hepatomegaly (17%), and spleen enlargement (12%). Anemia was found in 39% of the women and in 51% of the men, 8% of individuals had thrombocytopaenia and 41% had hypoglycemia.

scholarly journals Developmental coordination disorder, psychopathology and IQ in 22q11.2 deletion syndrome

2018 ◽  
Vol 212 (1) ◽  
pp. 27-33 ◽  
Author(s):  
Adam C. Cunningham ◽  
Sue Delport ◽  
Wendy Cumines ◽  
Monica Busse ◽  
David E. J. Linden ◽  
...  
Keyword(s):  
Developmental Coordination Disorder ◽  
Neurodevelopmental Disorder ◽  
22Q11.2 Deletion Syndrome ◽  
Autism Spectrum ◽  
Deletion Syndrome ◽  
Neurocognitive Deficits ◽  
22Q11.2 Deletion ◽  
Hyperactivity Disorder ◽  
History Of ◽  
Coordination Disorder

Background22q11.2 deletion syndrome (22q11.2DS) is associated with high rates of neurodevelopmental disorder, however, the links between developmental coordination disorder (DCD), intellectual function and psychiatric disorder remain unexplored.AimsTo establish the prevalence of indicative DCD in children with 22q11.2DS and examine associations with IQ, neurocognition and psychopathology.MethodNeurocognitive assessments and psychiatric interviews of 70 children with 22q11.2DS (mean age 11.2, s.d. = 2.2) and 32 control siblings (mean age 11.5, s.d. = 2.1) were carried out in their homes. Nine children with 22q11.2DS and indicative DCD were subsequently assessed in an occupational therapy clinic.ResultsIndicative DCD was found in 57 (81.4%) children with 22q11.2DS compared with 2 (6.3%) control siblings (odds ratio (OR) = 36.7,P< 0.001). Eight of nine (89%) children with indicative DCD met DSM-5 criteria for DCD. Poorer coordination was associated with increased numbers of anxiety, (P< 0.001), attention-deficit hyperactivity disorder (ADHD) (P< 0.001) and autism-spectrum disorder (ASD) symptoms (P< 0.001) in children with 22q11.2DS. Furthermore, 100% of children with 22q11.2DS and ADHD had indicative DCD (20 of 20), as did 90% of children with anxiety disorder (17 of 19) and 96% of children who screened positive for ASD (22 of 23). The Developmental Coordination Disorder Questionnaire score was related to sustained attention (P= 0.006), even after history of epileptic fits (P= 0.006) and heart problems (P= 0.009) was taken into account.ConclusionsClinicians should be aware of the high risk of coordination difficulties in children with 22q11.2DS and its association with risk of mental disorder and specific neurocognitive deficits.Declaration of interestNone.

scholarly journals Consensus guidelines on managing Rett syndrome across the lifespan

2020 ◽  
Vol 4 (1) ◽  
pp. e000717
Author(s):  
Cary Fu ◽  
Dallas Armstrong ◽  
Eric Marsh ◽  
David Lieberman ◽  
Kathleen Motil ◽  
...  
Keyword(s):  
Primary Care ◽  
Rett Syndrome ◽  
Health Professionals ◽  
Best Practice ◽  
Neurodevelopmental Disorder ◽  
Primary Care Providers ◽  
Care Providers ◽  
Medical Comorbidities ◽  
Modified Delphi ◽  
Delphi Approach

BackgroundRett syndrome (RTT) is a severe neurodevelopmental disorder with complex medical comorbidities extending beyond the nervous system requiring the attention of health professionals. There is no peer-reviewed, consensus-based therapeutic guidance to care in RTT. The objective was to provide consensus on guidance of best practice for addressing these concerns.MethodsInformed by the literature and using a modified Delphi approach, a consensus process was used to develop guidance for care in RTT by health professionals.ResultsTypical RTT presents early in childhood in a clinically recognisable fashion. Multisystem comorbidities evolve throughout the lifespan requiring coordination of care between primary care and often multiple subspecialty providers. To assist health professionals and families in seeking best practice, a checklist and detailed references for guidance were developed by consensus.ConclusionsThe overall multisystem issues of RTT require primary care providers and other health professionals to manage complex medical comorbidities within the context of the whole individual and family. Given the median life expectancy well into the sixth decade, guidance is provided to health professionals to achieve current best possible outcomes for these special-needs individuals.

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