Many DLG4 SHINE affected individuals suffer some type of sleep disturbance in their lifetime. These can take various forms and change over time. They may have difficulty falling asleep, or staying asleep. Many families report frequent night waking which can last for hours and dramatically affect the total quantity of sleep for the night. On the other hand, other individuals (or the same person at other phases of life) appear to need more daily sleep than their peers.

Sleep difficulties are very hard to treat and are exhausting for the caregivers.

Often referred to as low muscle tone, hypotonia affects many DLG4 SHINE individuals. This causes delays in the development of gross motor skills in infancy and early childhood (e.g. rolling over, sitting, walking), as well as in language development. In later years, it can also affect posture making it hard to sit and stand straight, and endurance making it hard to sustain activities like standing in place or walking for as long as their peers.

In later years, hypotonia can affect posture and endurance, making it hard to maintain upright positions and engage in physical activities as long as their peers. While hypotonia itself has no cure, supportive therapies like physiotherapy, occupational therapy, and speech therapy are essential for improvement and management.

Intellectual disability is the most common symptom of DLG4 SHINE. Nearly all affected individuals have this diagnosis. The severity can however vary greatly across the population but in all cases it affects learning, problem solving and judgement, as well as adaptive functioning, communication and social participation and therefore has a tremendous impact on independence.

Intellectual disability is a life-long condition that requires ongoing intervention and a lot of patience.

This is the broadest symptom and really refers to a large category of symptoms some of which are experienced by DLG4 SHINE affected individuals and which all stem from a dysfunction of the brain or nervous system.

The most commonly reported in scientific literature and by patient families are autism or autism-like symptoms, which often includes sensory processing issues, and ADHD. These affect mood and emotional regulation, communication, sensations, behavior and can cause regressions, and they have a tremendous impact on everyday life, social interactions and learning.

Epilepsy is diagnosed in more than half of the DLG4 SHIINE patient population. There is great variability in the type of seizures experienced by affected individuals as well as in their frequency and the age at which they start (known as age of onset). In many cases, finding the right treatment to control the seizures is quite difficult and requires a lot of trial and error and a combination of two or more medications. There is additionally an unusually high percentage of patients diagnosed with a rare form of epilepsy in sleep known as DEE-SWAS (formerly called ESES) which is especially hard to control and is associated with regressions.

Epilepsy is a devastating symptom which has severe repercussions on daily life.