Joubert Syndrome is a rare, autosomal recessive disorder that affects the cerebellum and brain stem. It presents with a distinct respiratory pattern and profound tachypnea in the newborn period.

The presentation of Cushing’s disease varies by age, with older adults having fewer hallmark features of the condition and ...

The original case of Joubert syndrome was followed for 30 years. At 30 years of age, this man had severe dysarthria, but the hyperpnea and apnea had diminished. His abnormal eye movements were ...

Rett syndrome is a rare genetic disease affecting 1 in 10,000 newborn girls, characterized by sudden regression around 1 year ...

More likely to fall through the cracks as kids, adult females are seeking autism diagnoses after years of searching for ...

A podcast, produced with funds from a crowdfunding project Uvuka, aims to 'set the record straight' about Sonell Joubert's arrest. A crowdfunding project that Zietta Janse van Rensburg launched un ...

But it can be costly and difficult to obtain an autism diagnosis later in life due to a shortage of medical professionals trained to work specifically with adults. Here’s more information on ...

Major cruise lines are increasingly offering adults-only spaces and experiences. These spaces can range from dedicated pools and sundecks to specialty restaurants and bars. While some adults-only ...

The Onderberg community has been in shock since Nel’s body was discovered on February 3, and Sonell Joubert, owner of the famous elephant Tswale, was arrested for his death. She appeared in ...

Researchers at Tel Aviv University, led by Prof. Illana Gozes, examined the effects of different mutations in the ADNP protein, which is essential for normal brain development and aging, on the brain ...

Adults with ADHD in the UK live 6.78 years shorter than the general population, with co-occurring health issues contributing to the disparity. Study: Life expectancy and years of life lost for ...