Learning problems, developmental delays, distinctive facial characteristics, unique traits of personality, and cardiovascular disorders are common characteristics of Williams syndrome, also known as Williams-Beuren syndrome. The disease affects both sexes equally. Around one in seven thousand to ten thousand people have William’s syndrome. Here we explain Williams syndrome symptoms, diagnoses, and treatments.
What Is the Age of Diagnosis of Williams Syndrome?
Infancy and early childhood are the most common times for Williams syndrome to be diagnosed. Children are diagnosed with a majority of cases before turning four. Sometimes, this condition is not detected until the child begins attending school.
Why does Williams Syndrome occur?
Missing genetic material causes Williams syndrome. An area of chromosome 7 gets purged of 26-28 genes, resulting in this condition. Several genes are deleted in general, including CLIP2, ELN, GTF2I, GTF2IRD1, and LIMK1. Williams syndrome is said to be caused by an absence of these genes and their corresponding symptoms.
Williams syndrome is caused by a lack of the DNA coding for specific genes in the baby. Below are the traits that result from this missing DNA.
- According to this theory, the distinct facial characteristics may be due to the missing GTF2IRD1.
- Connective tissue problems and cardiovascular disease may be caused by the absence of ELN.
- There is a consensus that the loss of CLIP2, GTF2I, and GTF2IRD1 are responsible for the characteristic behavior and learning difficulties of the person.
In patients without a family history, the deletion usually occurs through an accidental process. There is a chance it might be inherited from a parent who suffers from the syndrome. If a person’s parents have the syndrome, there is about a 50% chance their children will inherit it as well. The gene must be carried by one copy for an inheritance to occur.
Williams syndrome symptoms
There are not all symptoms of Williams syndrome in every baby. It differs from individual to individual how severe and frequent the symptoms are. As the baby grows, some of its symptoms become apparent.
There are three main characteristics to this syndrome: cognitive, behavioral, and physical.
Physical characteristics
Feeding difficulties
It may be difficult for babies to feed because of a weak palate and throat muscles. They may find it difficult to switch from liquid to solid. During an extended period of colic, they might also be cranky.
Facial and dental irregularities
A chubby cheek, wide mouth with plump lips, and a small pointed chin distinguish this type of face. There is also a broad forehead, puffiness around the eyes, a broad and flattened nose, and a broad and flattened nose. There may be malformed, crooked, and small teeth, and the upper and lower dental arches may be misaligned. A baby may be born with microcephaly (a small head compared to the average one).
Eye-related abnormalities
Star-like patterns often exist in the iris of newborns. An infant with this birth defect has his/her eyes turned inward (infantile esotropia) and the oblique muscles responsible for rotating the eyes malfunction. It is also possible for each eye to drift upward separately (dissociated vertical deviation). It is also possible to suffer from amblyopia (blurred vision) or hyperopia (farsightedness).
Growth retardation
It is possible for newborns to have low birth weights and to have weight gain problems. Perhaps they are growing more slowly than normal. As well as having shorter statures, they may have less weight than those without the syndrome.
Connective tissue problems
Among the connective tissues, such as those in the skin and joints, the baby might have problems. Several joint problems could affect moving the body, including walking and crawling. There is also a possibility of loose skin developing on the baby.
Skeletal abnormalities
The bones of the body may become abnormally shaped. The most common site of injury is the pelvis. A hunched back (kyphosis), excessive curvature of the spine (lordosis), and sideward curvature of the spine (scoliosis) are other skeletal abnormalities. The big toe may also have an abnormal inward curvature (hallux valgus) and a sunken breastbone (pectus excavatum).
Related: Hypotonia Or Floppy Infant Syndrome: Symptoms, Causes, And Treatment
Hypercalcemia
Hypercalcemia may occur in some babies. In addition to irritability, tiredness, pain in the abdomen, poor appetite, and muscle aches, increased calcium levels may impact the body.
Sensitivity to sound
The affected babies may have an increased sensitivity to sound (hyperacusis). Frequent ear infections are also possible.
Developmental delays
Developing motor skills, such as picking up objects, sitting, walking, and learning to use the toilet, may take longer than normal.
Premature development of sexual traits
The skin beneath the armpit and pubic hair can grow before a baby or toddler’s normal time frame in older babies and toddlers.
Other physical symptoms
Infants who exhibit no symptoms of gastrointestinal distress can suffer chronic vomiting, diarrhea, and constipation.
Cognitive characteristics
Cognitive impairment: The baby may developmental disorders in the first few years after birth, such as anxiety, attention deficit disorder (ADD), or phobias. The low IQ of these individuals may cause them to have difficulty learning.
Problems in visual-spatial tasks: With the disorder, people may have difficulty completing tasks like puzzles or drawing.
Behavioral characteristics
As they grow up, children with Williams syndrome are outgoing, social, and highly enthusiastic. Trusting others easily and being interested in others are two of their characteristics. There are some older toddlers with Down syndrome who have exceptionally strong language skills and a good vocabulary.
Williams Syndrome and Medical Concerns
Several health conditions may occur in babies affected by Williams syndrome.
- Approximately 75% of Williams syndrome babies have congenital heart defects. It is also possible for blood vessels to be affected in babies with this condition.
- There may be frequent problems with the digestive system and the urinary system.
- Some babies may have underdeveloped thyroid glands.
- There may be an umbilical or inguinal hernia.
Williams Syndrome Diagnosis
Here are some of the procedures that are usually used to diagnose Williams syndrome in babies.
- An examination of the physical features of Williams syndrome is recommended
- Cardiological examinations using electrocardiograms and echocardiograms
- Hypercalcemia is determined by blood tests
- FISH tests and chromosomal microarrays are DNA tests
- Genetic disorders should be checked in any family members
Williams Syndrome Treatment
Williams syndrome cannot be cured. As a result of the treatments, the debilitating symptoms of the child are eased. With age, the type and duration of treatment may change.
Specific treatments and management steps for Williams syndrome can be considered.
- For associated hypercalcemia: Infants with hypercalcemia may need to restrict the amount of calcium and vitamin D they consume. Use of corticosteroids, such as prednisone, could be prescribed for some children with high calcium levels.
- For cardiovascular problems: Cardiovascular issues are assessed by a comprehensive medical examination. If a child has a serious heart defect, surgical procedures might be considered.
- For dental abnormalities: If a child has dental abnormalities, they may require dental treatment.
- For developmental problems: Specialized centers and schools may be able to assist children with impaired physical abilities. In these centers, the child may receive physical therapy and occupational therapy. Therapy for speech or language disorders is available.
- For social behavior: Children suffering from social anxiety may benefit from early social training.
Does Williams Syndrome fall under the category of autism?
Autism spectrum disorders or Williams syndrome are not the same things. Williams syndrome children could develop cardiovascular conditions, hypertension, or hypercalcemia, whereas autistic children may not. Williams syndrome children frequently have distinct physical characteristics that are not present in children with autism.
The socially awkward and reserved nature of autistic children is also typical. A child with Williams syndrome, on the other hand, is overly friendly, outgoing, and loves to talk to others.
Williams Syndrome Long-Term Complications
In the long run, Williams syndrome is one of the most common causes of cardiovascular disease and skeletal abnormalities. By initiating relevant treatments and management steps early, most complications can be avoided. A cognitive problem’s effect could vary based on its severity. It may be necessary for the child to receive special education and care from a caregiver, depending on the extent of his cognitive impairment.
Several physical and mental problems are associated with the Williams syndrome, a rare genetic disorder. In case of long-term complications, timely treatment and continuous management are important. Many babies with this disorder may grow up without difficulties and deficiencies as a result of advances in medicine and improved understanding of the syndrome.
References
Williams syndrome; U.S. National Library of Medicine
Williams syndrome; National Organization for Rare Disorders
Diagnosing Williams Syndrome; St. Louis Children’s Hospital
Williams syndrome; National Center for Advancing Transitional Sciences