Neurocognitive Functions and Behavior in Joubert Syndrome
نویسندگان
چکیده
منابع مشابه
Neurocognitive Functions and Behavior in Joubert Syndrome
Investigators from multiple Italian pediatric neurology and neurogenetics departments studied cognitive functions, behavior, and adaptive functioning in large cohort of 54 patients with Joubert syndrome (JS) as part of a prospective, multi-center study.
متن کاملSpeech difficulties in Joubert syndrome
Introduction: "Joubert syndrome" was first introduced in1969. This syndrome is a rare genetic disease with autosomal dominantpattern. Hypotonia, ataxia and motor delay of the disease known as clinical manifestations. In the few reports of this syndrome, mostly functional and structural components studied and radiographic images such as speech and language developmental delay symptoms has been l...
متن کاملJoubert syndrome.
Joubert syndrome is an autosomal recessive condition in which there is a variable combination of central nervous system defects with a distinctive congenital retinal dystrophy, ocular motor abnormalities, and respiratory abnormalities in early infancy. The retinal dystrophy has been previously classified as a variant of Leber's congenital amaurosis. We report electrophysiologic and eye movement...
متن کاملMRI in Joubert Syndrome
The patient was an 8-month-old boy who was the product of a full-term and uncomplicated pregnancy. He had a remarkable family history with the presence of the same clinical course in a cousin, who was not clearly diagnosed as having Joubert Syndrome. He had apnea episodes, truncal ataxia, pendular nystagmus and mentalmotor developmental delay. He had a normal vestibuloocular reflex based on hea...
متن کاملJoubert Syndrome and related disorders
Joubert syndrome (JS) is a rare autosomal recessive condition characterized by a peculiar midbrain-hindbrain malformation, known as the molar tooth sign (MTS). The neurological presentation of JS includes hypotonia that evolves into ataxia, developmental delay, abnormal eye movements, and neonatal breathing abnormalities. This picture is often associated with variable multiorgan involvement, ma...
متن کاملذخیره در منابع من
با ذخیره ی این منبع در منابع من، دسترسی به آن را برای استفاده های بعدی آسان تر کنید
ژورنال
عنوان ژورنال: Pediatric Neurology Briefs
سال: 2016
ISSN: 2166-6482,1043-3155
DOI: 10.15844/pedneurbriefs-30-12-3