DiGeorge Syndrome (DGS) Symptoms, Diagnosis & Treatment (2024)

FAQs

DiGeorge Syndrome (DGS) Symptoms, Diagnosis & Treatment? ›

Some develop arthritis. Individuals with DGS may have a variety of other abnormalities including cleft palate, delayed speech, and difficulty in feeding and swallowing. Some have learning disabilities, behavioral problems, psychiatric disorders (such as schizophrenia), and hyperactivity.

It's often diagnosed soon after birth with a blood test to check for the genetic fault.

Thus, regular follow-up and care are essential for the person to live a productive, long, and fulfilling life. With appropriate treatment, most children with DiGeorge syndrome grow into adulthood; however, children with severe defects may not survive beyond two to three years.

Occupational therapy to improve developmental delays. Hormone replacement therapy to treat endocrine abnormalities. Surgery to repair internal organ symptoms or a cleft palate. Medicine to reduce seizures or neurological conditions.

With the implementation of screening tests, even mild cases have been able to be identified early. However, some rare cases of DiGeorge syndrome are not diagnosed until adulthood. DiGeorge syndrome is heterogeneous with a variable clinical picture. It can range from complete (severe) to partial (mild) forms.

Deep gluteal syndrome (DGS) is an underdiagnosed entity characterized by pain and/or dysesthesias in the buttock area, hip or posterior thigh and/or radicular pain due to a non-discogenic sciatic nerve entrapment in the subgluteal space.

Symptoms of DiGeorge syndrome may include: Heart issues, such as problems with the structure of the heart and vessels, or a heart murmur and bluish skin because of poor circulation of blood, also known as cyanosis. Frequent infections.

The majority of individuals with 22q11. 2DS will have an IQ in the range of 55-85 (general population average is 100). Problems with abstraction and comprehension in reading and math are usually apparent at school age. Severe intellectual disability is less frequent but may also be present with this syndrome.

Some speech manifestations associated with DGS include delayed speech emergence, dysarthria, velopharyngeal dysfunction, childhood apraxia of speech, and phonological disorders, all of which may persist into adolescence [10].

Is DiGeorge syndrome an autism spectrum disorder? DiGeorge syndrome is one of a growing list of genetic disorders whose symptoms sometimes overlap with those of autism. An estimated 15 to 20 percent of those with DiGeorge meet the behavioral criteria for a diagnosis of autism spectrum disorder (ASD).

What psychiatric disorders are associated with DiGeorge syndrome? ›

Research has demonstrated a strong association between DGS and psychiatric disorders such as psychotic disorders, attention-deficit or hyperactivity disorder, mood disorders, anxiety disorders and autistic spectrum disorders (ASD).

2 deletion syndrome. The most common congenital heart defects are called conotruncal lesions and include interrupted aortic arch, truncus arteriosus, tetralogy of Fallot, and ventricular septal defects are also frequently diagnosed in children with 22q11. 2 deletion syndrome, as can other congenital heart defects.

Individuals with DGS can have autoimmune disease resulting in low platelets (which causes bleeding problems), low neutrophils (white blood cells that also fight infection), and low red blood cells, which carry oxygen in the blood.

It occurs in 1 in every 3000–6000 births and is equally distributed between males and females [1, 2].

Cardiac causes were the most common; they were listed as the single cause of death in 27 patients (45.8%) or in combination with other causes in 46 (78%) patients.

Your child likely will benefit from a range of therapies, including speech therapy, occupational therapy and developmental therapy. In the U.S., early intervention programs providing these types of therapy usually are available through a state or county health department.

Features of DGS include cardiac anomalies, recurrent infections, abnormal facies, thymic hypoplasia or aplasia, cleft palate, developmental delay, and hypocalcemia.

DiGeorge syndrome is most commonly diagnosed with a blood test called a FISH analysis (Fluorescent In Situ Hybridization). A health care provider is likely to request a FISH analysis if a child has symptoms that may indicate DiGeorge syndrome, or if there are signs of a heart defect.

Symptoms vary widely and can range from heart defects and developmental delays to seizures. A child's eyes, nose, or ears may look different. Or the child may have an opening in the roof of the mouth (cleft palate). The syndrome has no cure.

2 DS can be discovered prenatally through: Amniocentesis. Genetic screening. Prenatal ultrasound.