Audiologic manifestations of Noonan syndrome☆☆☆★★★

Qiu, William W.; Yin, Shengguang S.; Stucker, Fred J.

doi:10.1016/s0194-5998(98)70308-0

Cited by 29 publications

(22 citation statements)

References 6 publications

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“…Hearing loss is more common in children with NS than in the general population (Qiu et al 1998), and many individuals experience frequent ear infections in childhood ).…”

Section: Intellectual Functioningmentioning

confidence: 99%

“…Additionally, for all individuals with NS, sensory concerns (e.g., vision or hearing limitations) must also be taken into account when selecting appropriate cognitive testing measures. Given the prevalence of both sensorineural and conductive hearing loss in NS (Qiu et al 1998), a referral should be made to an audiologist for further testing if auditory concerns are suspected. A vision assessment may also be appropriate, as eye conditions and refractory errors are well-documented (Lee et al 1992).…”

Section: Considerations For Clinical Neuropsychological Assessment Ofmentioning

confidence: 99%

“…Individuals with NS are at increased risk for feeding and gastrointestinal problems, growth and endocrine disorders, delayed puberty, hematologic symptoms, chest deformity, scoliosis, and chronic pain, among other features (Romano et al 2010;Smpokou et al 2012). Hearing and visual concerns are also common (Qiu et al 1998;Alfieri et al 2008). Comprehensive reviews of medical features in NS were recently published by Romano et al (2010) and Roberts et al (2013).…”

Section: Introductionmentioning

confidence: 99%

See 2 more Smart Citations

Neuropsychological Functioning in Individuals with Noonan Syndrome: a Systematic Literature Review with Educational and Treatment Recommendations

Pierpont

2015

J Pediatr Neuropsychol

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Noonan syndrome (NS) is a relatively common genetic syndrome with variable features including short stature, congenital heart disease, distinctive facial characteristics, skeletal anomalies, and varying degrees of developmental delay. NS is caused by gene mutations in a cellular signaling pathway that is essential for typical growth and development. Research in the past few decades has revealed that individuals with NS have highly variable neurocognitive and behavioral outcomes. To a certain extent, variability in cognitive functioning depends on the particular gene where a mutation is found; additionally, factors related to medical severity and environmental effects contribute substantially to outcomes. This article contains a systematic review of research on neuropsychological features of NS, including cognition, motor development, language, memory, attention, visual perception, adaptive behavior, social skills, and mental health concerns. Given the wide variety of possible cognitive and behavioral complications associated with NS, it is recommended that clinical neuropsychological evaluation of cognitive, adaptive, and psychological domains of functioning should be standard of care for all individuals with NS. Suggested considerations for assessment of individuals with NS are provided. The paper concludes with recommendations for educational and therapeutic interventions, as well as suggestions for future research directions.

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“…Hearing loss is more common in children with NS than in the general population (Qiu et al 1998), and many individuals experience frequent ear infections in childhood ).…”

Section: Intellectual Functioningmentioning

confidence: 99%

Section: Considerations For Clinical Neuropsychological Assessment Ofmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

See 1 more Smart Citation

Neuropsychological Functioning in Individuals with Noonan Syndrome: a Systematic Literature Review with Educational and Treatment Recommendations

Pierpont

2015

J Pediatr Neuropsychol

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“…10 Dental malocclusion and microagnathia are seen in Noonan cases. 4 Our patient had no hearing defect or dental malocclusion.…”

Section: Discussionmentioning

confidence: 99%

Noonan’s Syndrome Diagnosed at Second Decade of Life

Jarallah¹,

Rajan²,

Dashti³

et al. 2017

IJRRT

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In 1963 Noonan and Ehmke described an autosomal dominant condition called Noonan syndrome in a group of patients with abnormal facial deformations, congenital heart diseases and various malformations. Its Incidence is 1 in 1000 to 2500 live births. One can miss the diagnosis in mildly affected cases as it usually depends on clinical features. We are presenting a case of a 24yr old Egyptian male, who was incidentally diagnosed to have Noonan's Syndrome by means of morphological, clinical and echocardiographic & magnetic resonance imaging (MRI) findings. This young patient had frequent spells of loss of consciousness. ECG showed runs of ventricular tachycardia with evidence of biventricular hypertrophy and severely impaired LV systolic function by ECHO. Treatment and prognosis varies from individual to individual according to its severity. Our patient was referred to electrophysiology department and underwent ICD implantation for secondary prevention of sudden cardiac death. This case report gives a clear cut management pathway when dealing with a newly identified adult Noonan. Most of the cases need multidisciplinary approach.

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“…Нарушения слуха отмечаются до 90 % случаев у детей с CHARGE-синдромом [7,11,12]. У пациентов с синдромом Нунана выявляется туго-ухость разной степени [19,20].…”

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The auditory function of infants with congenital heart diseases

et al. 2017

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Congenital heart disease (CHD) is 1/3 of all congenital malformations and one of the main causes of infant mortality. Hearing loss may be part of syndromes associated with CHD, or the hearing pathology can be a consequence of the various stages of rehabilitation of underlying pathology. Currently, there isn’t any data on the systematic study of hearing impairment in children with congenital cardiac pathologies. Three hundred and six patients aged 2 days to 8.5 months were examined: 96 patients were included in the main group with CHD, and 300 children without CHD made up a comparison group. All children underwent newborn hearing screening. Infants with suspected hearing pathology were tested with a comprehensive audiological examination. In the CHD group hearing impairment was detected in 29% of children, including sensorineural hearing loss (SNHL) in 12%. And in the comparison group, 3.6% of infants had a hearing loss, SNHL was defined in 1%. Analysis of the data revealed the most significant risk factors for hearing impairments in children with CHD and it had showed the difference in the structure of the risk factors between the both groups. In the study group was registered a case of auditory neuropathy spectrum disorders. This case illustrated the importance of conducting hearing screening by means of click-evoked auditory brainstem responses and not only of registration of otoacoustic emissions. One child with CHD was found to have delayed SNHL, which requires long-term monitoring of hearing in children with cardiopathology.

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Audiologic manifestations of Noonan syndrome☆☆☆★★★

Cited by 29 publications

References 6 publications

Neuropsychological Functioning in Individuals with Noonan Syndrome: a Systematic Literature Review with Educational and Treatment Recommendations

Neuropsychological Functioning in Individuals with Noonan Syndrome: a Systematic Literature Review with Educational and Treatment Recommendations

Noonan’s Syndrome Diagnosed at Second Decade of Life

The auditory function of infants with congenital heart diseases

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