Hyperactivity, Unexplained Speech Delay, and Coarse Facies—Is It Sanfilippo Syndrome?

2013 ◽  
Vol 29 (8) ◽  
pp. NP9-NP12 ◽  
Author(s):  
Arushi Gahlot Saini ◽  
Pratibha Singhi ◽  
Jitendra Kumar Sahu ◽  
Saptharishi L. Ganesan ◽  
Sameer Vyas ◽  
...  
Keyword(s):  
Speech Delay ◽  
Sanfilippo Syndrome ◽  
Coarse Facies

Hearing and Neurodevelopmental Outcomes of Young Infants with Parechovirus-A and Enterovirus Meningitis: Cohort Study in Singapore Children and Literature Review

2020 ◽  
Author(s):  
Elis Yuexian Lee ◽  
Jessica Hui Yin Tan ◽  
Chew Thye Choong ◽  
Nancy Wen Sim Tee ◽  
Chia Yin Chong ◽  
...  
Keyword(s):  
Developmental Delay ◽  
Oropharyngeal Dysphagia ◽  
Significant Risk ◽  
Developmental Outcomes ◽  
Autism Spectrum ◽  
Clinical Findings ◽  
Cortical Blindness ◽  
Speech Delay ◽  
Neurodevelopmental Outcomes ◽  
Young Infants

Abstract Parechovirus-A (PeV-A) and Enterovirus (EV) commonly cause childhood aseptic meningitis. Bacterial meningitis in children has been associated with devastating long-term sequelae. However, developmental outcomes are unclear in Parechovirus meningitis. This study aims to review the clinical findings and developmental outcomes of infants with PeV-A and EV meningitis. We performed a retrospective study of infants aged 90 days or younger being admitted to our hospital with PeV-A meningitis between November 2015 and July 2017, with positive cerebrospinal fluid (CSF) PeV-A PCR and negative blood and CSF bacterial cultures. Hearing and neurodevelopmental outcomes were compared with a previous cohort of infants aged 90 days or younger with EV meningitis admitted from January 2015 to December 2015. A total of 161 infants were included in our study, of which 68 infants (42.2%) had PeV-A meningitis and 93 infants (57.8%) had EV meningitis. We assessed their developmental outcome at 6 months, 1 year, and 2 years post-meningitis. At 2 years post-meningitis, three infants with PeV-A meningitis had developmental delay (5.5%), whereas none with EV meningitis had developmental delay. One patient had speech delay and autism spectrum disorder, while two had mild speech delay. When compared with our cohort of EV meningitis ≤90 days old, children with PeV-A meningitis ≤90 days old were more likely to have developmental delay 2 years post-meningitis (odds ratio 2.4, 95% confidence interval 2.0–3.0, p = 0.043). None of the patients with PeV-A or EV meningitis had sensorineural hearing loss or neurological sequelae, such as cortical blindness, oropharyngeal dysphagia, hydrocephalus, epilepsy, or cerebral palsy. Infants with PeV-A meningitis had a significant risk of developmental delay 2 years post-meningitis compared with those with EV meningitis. It is important to follow-up the developmental milestones of infants diagnosed with PeV-A meningitis for at least 2 years; and when they develop developmental delay, to ensure that they receive appropriate intervention.

scholarly journals High dose genistein in Sanfilippo syndrome: a randomised controlled trial

2021 ◽  
Author(s):  
Arunabha Ghosh ◽  
Stewart Rust ◽  
Kia Langford‐Smith ◽  
Daniel Weisberg ◽  
Maria Canal ◽  
...  
Keyword(s):  
Randomised Controlled Trial ◽  
Controlled Trial ◽  
High Dose ◽  
Sanfilippo Syndrome ◽  
Randomised Controlled

Mucopolysaccharidosis III in Mainland China: natural history, clinical and molecular characteristics of 34 patients

2020 ◽  
Vol 33 (6) ◽  
pp. 793-802 ◽  
Author(s):  
Weijing Kong ◽  
Yan Meng ◽  
Liping Zou ◽  
Guang Yang ◽  
Jing Wang ◽  
...  
Keyword(s):  
Mental Retardation ◽  
Autosomal Recessive ◽  
Mainland China ◽  
Clinical Manifestations ◽  
Hereditary Disease ◽  
Molecular Characteristics ◽  
Speech Delay ◽  
Initial Symptoms ◽  
Mps Iii ◽  
Mps Iiia

AbstractObjectivesSanfilippo syndrome (Mucopolysaccharidosis III, MPS III) is a rare autosomal recessive hereditary disease, which is caused by lysosomal enzyme deficiency. This study was operated to investigate clinical and molecular characteristics of patients with MPS III, which will improve the diagnosis and treatment of MPS III.MethodThirty four patients with MPS III were assessed using clinical evaluation, questionnaire, and scoring system.ResultsAmong the 34 patients, 14 had MPS IIIA, 19 had MPS III B, and one had MPS III C. Speech delay (100%) and intellectual disability (100%) were the most prevalent clinical manifestations in this cohort, followed by hyperactivity (94.12%), hirsutism (91.18%), enlarged head circumference (73.52%), repeated diarrhea (67.64%), sparse teeth (67.64%), and Mongolian spots (64.71%). There were two clinical manifestations that were significantly different between IIIA and IIIB: Hepatosplenomegaly and serrated teeth. The most common initial symptoms at diagnosis were speech delay (52.94%), hyperactivity (35.29%), and mental retardation (29.41%). Genetic analysis of 25 patients was conducted, which identified 12 novel mutations.ConclusionWhen language retardation, mental retardation, and rough facial features occurred, MPS III should be considered. At same time, more examination should be operated, such as examination of changes in cranial magnetic resonance imaging of cerebral cortex atrophy. Hepatosplenomegaly and serrated teeth could be used clinically to preliminarily distinguish IIIA from IIIB.

Antimicrobial Treatment of Acute Otitis Media

1994 ◽  
Vol 103 (5_suppl) ◽  
pp. 11-14 ◽  
Author(s):  
Daniel M. Canafax ◽  
G. Scott Giebink
Keyword(s):  
Hearing Loss ◽  
Otitis Media ◽  
Antimicrobial Agents ◽  
Acute Otitis Media ◽  
Antimicrobial Treatment ◽  
Speech Delay ◽  
Significant Morbidity ◽  
Antimicrobial Drugs ◽  
Etiologic Role ◽  
History Of

Episodes of acute otitis media frequently occur in childhood and are attended by significant morbidity, such as hearing loss and possible speech delay. Bacteria play an important etiologic role in the pathogenesis of otitis media; therefore, antimicrobial agents are the cornerstone in the treatment of this disease. Many antimicrobial choices are available for treating children with acute otitis media. To choose an antimicrobial for each patient, consideration must be given to the patient's age, history of otitis media episodes, and responses to previously used antimicrobial drugs, and the regional antimicrobial susceptibility of the otitis media pathogens.

Metrical Analysis of the Speech of Children With Suspected Developmental Apraxia of Speech

1999 ◽  
Vol 42 (6) ◽  
pp. 1444-1460 ◽  
Author(s):  
Shelley L. Velleman ◽  
Lawrence D. Shriberg
Keyword(s):  
Differential Diagnosis ◽  
Diagnostic Marker ◽  
Lexical Stress ◽  
Apraxia Of Speech ◽  
Speech Delay ◽  
Acoustic Measures ◽  
Metrical Phonology ◽  
Developmental Apraxia ◽  
Metrical Analysis ◽  
Better Than

Previous studies have shown that metrical analysis accounts for syllable omissions in young normally developing children better than prior perspectives. This approach has not yet been applied to children with disorders. Inappropriate sentential stress has been proposed as a diagnostic marker for a subgroup of children with suspected developmental apraxia of speech (SD-DAS), suggesting that the application of metrical perspectives to this population may be appropriate. This report extends the goal of identifying diagnostic markers for SD-DAS using analytic procedures from metrical phonology. The lexical metrical patterns of children with SD-DAS were compared to those of a group of children with speech delay (SD) to verify the applicability of metrical constructs to children with disorders while at the same time seeking lexical stress characteristics that might be useful for differential diagnosis. The lexical stress errors of children in both the SD and SD-DAS disorder groups were found to conform to patterns identified in metrical studies of younger normally developing children, confirming the applicability of this approach to children with disorders. Lexical metrical patterns did not differentiate the groups from each other. However, syllable omissions persisted to much later ages in the SD-DAS subjects, especially those children previously identified as having inappropriate phrasal stress. Further metrical studies of the speech of children with suspected SD-DAS are needed, both at the lexical and the sentential level, using both perceptual and acoustic measures.

Identification and characterisation of an 8.7kb deletion and a novel nonsense mutation in two Italian families with Sanfilippo syndrome type D (mucopolysaccharidosis IIID)

2007 ◽  
Vol 90 (1) ◽  
pp. 77-80 ◽  
Author(s):  
Clare E. Beesley ◽  
Daniela Concolino ◽  
Mirella Filocamo ◽  
Bryan G. Winchester ◽  
Pietro Strisciuglio
Keyword(s):  
Nonsense Mutation ◽  
Syndrome Type ◽  
Sanfilippo Syndrome ◽  
Type D
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