Putting a Spotlight On

Each month The Arc of New Jersey Family Institute spotlights a different developmental disability to help build awareness and educate others about the disorder. Learn more below.


What is PACS- 1?

PACS1 syndrome is a condition in which all affected individuals have intellectual disability, speech and language problems, and a distinct facial appearance. Many affected individuals have additional neurological, behavioral, and health problems.

In PACS1 syndrome, intellectual disability typically ranges from mild to moderate. Individuals with this condition also have problems with producing speech (expressive language). Speech development ranges from limited language to few words or no speech.

What are some symptoms of PACS-1?

Individuals with PACS1 syndrome have a distinct facial appearance. Facial features include thick and highly arched eyebrows, long eyelashes, widely set eyes (hypertelorism), outside corners of the eyes that point downward (downslanting palpebral fissures), droopy eyelids (ptosis), a rounded nasal tip, a wide mouth with corners that point downward, a thin upper lip, a smooth area between the nose and upper lip (philtrum), widely spaced teeth, and ears that are low-set with fewer folds and grooves than normal (described as "simple"). Abnormalities of other body systems can also occur, such as malformations of the heart, brain, eyes, or other organs. Males may have undescended testes (cryptorchidism).

Children with PACS1 syndrome often have problems learning to eat solid food and prefer soft foods. When given solid foods, affected children often swallow without chewing. These food issues tend to persist throughout life. Some affected individuals experience a backflow of stomach acids into the esophagus (gastroesophageal reflux).

Additional neurological problems can occur in PACS1 syndrome. Some affected individuals have features of autism spectrum disorder, which is characterized by impaired communication and social interaction. Attention deficit hyperactivity disorder, obsessive compulsive disorder, self-injury, or frustration leading to tantrums can also occur. Most individuals with PACS1 syndrome have seizures that vary in type and age of onset. Some people with PACS1 syndrome have weak muscle tone (hypotonia). Individuals with this condition are often delayed in walking, with some developing an unsteady walking style (gait). Rarely, affected individuals have frequent falls and gradually lose their ability to walk in late childhood, requiring wheelchair assistance.

How is PACS-1 Diagnosed?

PACS1 syndrome can be diagnosed through genetic testing (specifically full exome sequencing). To date there are approximately 60 cases known world-wide. With exome sequencing becoming more widely available there are likely to be many more cases identified.

How is PACS-1 treated?

The treatment of PACS1-related syndrome  depends on the signs and symptoms present in each person. When a child or adult is first diagnosed with PACS1-related syndrome, a number of tests and consultations may be recommended including:[2][4] 

Meeting with a dietician to discuss any feeding problems

EEG to assess if there are any seizures occurring

Brain MRI to look for any brain abnormalities

Consultation with an ophthalmologist to assess for any eye abnormalities

Ultrasound of heart and kidneys.

Although there is no cure for PACS1-related syndrome, there are treatment and therapy options that can help manage many of the signs and symptoms of the syndrome. Anti-epileptic medications can be used to help control seizures. Sometimes, children with PACS1-related syndrome may need feeding tubes to help them get enough nutrients. Children with PACS1-related syndrome may be recommended to be followed by a developmental pediatrician, and they may benefit from speech, physical, and occupational therapy. Some children and adults with PACS1-related syndrome are better able to communicate if they learn sign language or have an electronic device to help them communicate





Bradford (33) and Bryan Manning (27) were both born with Stargardt disease, an inherited retinal disease (IRD) that affects the retina and causes the gradual loss of central vision. While progression is different for each individual, both Manning brothers have now lost their central vision, forcing them to use their diminished peripheral vision to navigate life. When it comes to shopping, the two men rely primarily on touch to choose their clothes.

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