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Spotlight on Syndromes: An SLPs and OTs Perspective on Williams Syndrome

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Today’s guest post on Williams Syndrome comes from Pamela Mandell, M.S. CCC-SLP with a contribution from Priya Deonarain, MA, OTR/L, CKTP.


Williams syndrome (WS), also known as Williams-Beuren Syndrome, is a rare genetic disorder caused by the deletion of the long arm of chromosome 7 or, more specifically a microdeletion at 7q11.23, which involves the elastin gene. WS occurs in approximately 1 in 10,000 births worldwide. It is characterized by cardiovascular disease, dysmorphic craniofacial features, a characteristic cognitive and personality profile, deficient visuospatial abilities, hyperacusis, growth retardation, developmental delays, feeding difficulties, and learning disabilities. However, many people with WS exhibit strong expressive language skills and an affinity for music. Mild to severe anxieties as well as Attention Deficit Hyperactivity Disorder (ADHD) are also associated with WS. The degree of severity or involvement of these characteristics is variable and no two individuals with WS are alike. WS affects both males and females equally. Sadler, et al. (2001), determined the severity of both supravalvular aortic stenosis (SVAS) and total cardiovascular disease was significantly higher in males than females. There is no cure for WS. Patients must be continually monitored and treated for symptoms throughout their lives.

Characteristic Facial Features

Most individuals with WS have similar facial features including a small, upturned nose, long philtrum, wide mouth, full lips, small chin (micrognathia), a flat, nasal bridge, and puffiness around the eyes. They also present with epicanthal folds, microdontia, malocclusion, enamel hypoplasia, dental aplasia, and fan-shaped orientation of the front teeth (Leung & Leung, 2009). In many publications, these facial features are referred to as “elfin” like. These facial characteristics become more prominent with age. Light eyed individuals with WS may have a “starburst” or white lacy pattern on their iris.

Heart and Blood Vessel Problems
Most individuals with WS present with some type of heart or blood vessel problem. Often, there is a narrowing in the aorta, resulting in SVAS, or a narrowing in the pulmonary arteries. Some require surgical correction of the defect depending on severity. These issues also result in hypertension, and monitoring of cardiac status is necessary.

Some babies with WS present with an elevated blood calcium level. Hypercalcemia can cause extreme irritability and colic-like symptoms. In many cases, the problem resolves as the child ages. However, some children may require medical or dietary treatment as well as monitoring. Some babies with WS without hypercalcemia also present with extended periods of irritability or colic. Colic can also interfere with sleeping patterns.

Low Birth Weight/Short Stature
Most children with WS are born with low birth weight and experience slow weight gain during their toddler years. Many of these children are diagnosed as “failure to thrive.” Individuals with WS have short stature in adulthood. Many also have precocious puberty.

Kidney Abnormalities/Hernia
There is an increased risk of problems for individuals with WS due to improper kidney function or structure. There is also an increased risk for inguinal and umbilical hernias.

Children with WS often experience sensitivity to sound. Noise levels and certain frequencies can be painful or startling to the child. Hyperacusis tends to improve with age.

Musculoskeletal Problems
Children diagnosed with WS can often have fluctuating muscle tone. Muscle tone is the continuous and passive partial contraction of the muscles or the muscle’s resistance to passive stretch during resting state. It also aids in facilitating our posture. Children in early stages of WS will be in a hypotonic state or floppy. Their joints will be hyper mobile and will require therapy to decrease compensatory movements secondary to their hypotonia. As they grow older, their tone will increase and they will be deemed in a hyper tonic state, which will require stretching and maybe orthotics to decrease the pull of the muscle or tendon and to improve range of motion. Children can suffer from W sitting, poor postural alignment, toe walking and poor body awareness due to the effects of their muscle tone on their muscle and sensory systems.

Differential Diagnosis 

Differential diagnosis of WS includes hypercalcemia, SVAS, autism spectrum disorder (ASD) and Down syndrome. However, straightforward differentiation is usually made due to the unique clinical features of WS. However, if an infant or child lacks significant features, the diagnosis may be delayed. WS can be confirmed via a blood test, fluorescent in situ hybridization (FISH) test, or by a targeted mutation analysis. The FISH test is preferred.

Behavioral Challenges

Individuals with WS have an overly friendly, excessively social, personality. They are unafraid of strangers and children with WS show greater interest interacting with adults than peers. Children with WS have endearing personalities. Leung & Leung (2009), state “These children have a happy affect – they cheer you up if you are having a bad day in clinic…” They are enthusiastic, socially engaging and conversational. They are sensitive to other’s emotions and expressive of their own emotions. They also have an excellent memory for faces and can remember people met infrequently or long ago. Individuals with WS also have a particular affinity for music. Children with WS are 4 times more likely to have ADHD (Leung & Leung, 2009). Individuals with WS may also suffer from severe anxieties, phobias and poor daily living skills.

Cognitive Impairments/Developmental Delay

WS is associated with a characteristic cognitive profile of mental strengths and weaknesses. Individuals with WS show strength in verbal short-term memory and language combined with severe weakness in visuospatial construction. Cognitively, there is a good deal of variety among individuals. Some children with WS have average or above average ranges of intelligence combined with a learning disability, while other children present with mild to moderate intellectual impairments.

Children with WS also present with developmental delays ranging from mild to severe. These delays are global and most children are significantly delayed in meeting early milestones such as crawling, walking, talking, toilet training, etc.

Speech, Language and Feeding Issues

Many infants and young children with WS present with significant feeding difficulties attributed to low muscle tone, hyper sensitive gag reflex, non integrated rooting reflex, poor suck/swallow, tactile defensiveness and significant oral hyposensitivity and hypersensitivity. Feeding issues usually resolve as the child ages.

Children with WS are nonverbally communicative from infancy, using facial expression, eye contact and gestures to communicate. However, the absence of triadic joint attention is consistently raised as concern by parents of toddlers with WS (Mervis & John, 2012). Expressive language is nearly always delayed in WS and may be due in part to motor delays. However, there is great variety in early language development. By 18 months, some children with WS begin talking in single words and some in phrases. Some children with WS begin talking in sentences at approximately 3 years, and by 4 or 5 years, language becomes one of their strengths. Mervis & John (2012) found that median age of acquisition of a 100 word expressive vocabulary was 37 months (range: 26-68 months). Expressive vocabulary becomes extensive as the child ages, but Mervis & John (2008) found that concrete vocabulary is a relative strength for children with WS, but relational vocabulary is very limited and is about at the same level of visuospatial construction ability. WS children also present with language processing and receptive language impairments. These impairments, combined with excellent auditory memory skills, result in language being encoded in chunks. Children with WS also tend to use unusual words and phrases during conversational speech. Many children with WS present with word finding deficits during stress situations (i.e. “when asked a question that has only one right answer”) as well as during spontaneous speech. They exhibit “circumlocution” or talking around a word, which can result in language that does not make sense.

Children with WS may also present with articulation issues and poor motor control planning. Children with WS typically present with a harsh, brassy or hoarse voice. Vaux et al. (2003) suggest that vocal cord dysfunction caused by abnormal vocal fold elastin may be the cause of hoarse voice in this condition. Between the ages of 4 and 12 years, Children with WS continue to demonstrate features of motor speech disorders (Mervis & Velleman, 2011).However, Mervis & Velleman (2011) state that “despite ongoing notable distortions and atypical voice quality, most school-age children with WS are quite intelligible in context.”

Children with WS also present with difficulties in pragmatic language. Children with WS are delayed in their ability to understand another person’s perspective or theory of mind. They have difficulty establishing and maintaining peer relationships and most adults with WS are socially isolated and do not engage with peers (John, et al., 2012). John & Mervis (2010), found that children with WS have more difficulty with sociocommunication than expected for chronological age or cognitive/language ability. Pragmatic difficulties appear similar to those with ASD. Common problems with preschoolers include difficulty integrating eye contact to show objects or to request objects that are out of reach. Other difficulties include inappropriate initiation as well as use of context (Mervis & Velleman, 2011). Mervis & Velleman (2011) also cite a study by Udwin & Yule (1990) who “reported that 37% of the children with WS in their study met criteria for hyperverbal speech (“excessive use of stereotyped phrases, over-familiarity, introduction of irrelevant experiences, perseverative responding”).

Current Interventions in Speech and Language

Early intervention is critical for children with WS given their delay in language onset and their difficulties with relational and pragmatic language. Speech and language therapy should focus on expanding expressive vocabulary and using sign language if speech is slow to develop. Sound production should focus on expanding consonant variety and two-syllable words. Feeding therapy should be initiated if necessary, but it is recommended that the child receive speech and language therapy at the same frequency and intensity as he/she would have received it if feeding therapy hadn’t been necessary (Mervis & Velleman, 2011). Incorporating music as well as many visuals and pictures during therapy sessions may help with language facilitation.

For preschool and school-age children, a full assessment of the child’s communication skills is warranted to determine the frequency, duration and intensity of treatment. Social skills should be included on the child’s IEP and the speech language pathologist can implement strategies to help the student with his/her ability to initiate social interactions and maintain conversations appropriately as well as maintain friendships. Older children benefit from learning strategies to cope with word finding difficulties, such as using phonemic cueing, encouraging the child to gesturally cue him/herself or encouraging the child to use visualization for cuing him/herself.

Therapy may also include treatment for grammatical speech errors as well as metalinguistics and inference making. When providing speech and language services, it is helpful to remember that many children with WS have attention difficulties as well as anxiety. Use of picture schedules for preschoolers for daily routines can be helpful to reduce anxiety and help with transitions. Older children may benefit from date books or time clocks. Using stories and role play to act out anxiety provoking situations may help. It is also helpful to remember that children with WS often have hyperacusis and may respond negatively to some sounds during treatment.

The Williams Syndrome Association provides excellent suggestions for teaching strategies that work well for children with WS.

Multidisciplinary Team

A multidisciplinary team is essential for individuals with WS and includes:

• medical specialists, especially a cardiologist
• speech-language pathologist
• occupational therapist
• physical therapist
• special educator
• music therapist
• behavior therapist and/or psychologist

Working with children with WS has been incredibly rewarding as an SLP. Children with WS put a big smile on your face. They are positive people who take pleasure in social interaction and who thoroughly enjoy being swept into my therapy room!

I would like to thank Priya Deonarain, MA, OTR/L, CKTP, on her contribution regarding the musculoskeletal characteristics of children with WS for this article. Priya and I have had the honor of collaborating on treatment protocols for many adorable children with WS.


1. Genetic Science Learning Center, University of Utah. Williams syndrome. Retrieved 2013, December 6 from

2. John, Angela E., Dobson, Lauren A., Thomas, Lauren E., & Mervis, Carolyn B. (2012). Pragmatic abilities of children with Williams syndrome: A longitudinal examination. Front Psychol; 3: 199. Published online 2012, June 18. [PMCID:PMC3376418] Retreived 2013, December 6 from

3. John, Angela E. & Mervis, Carolyn B. (2010). Comprehension of the communicative intent behind pointing and gazing gestures by young children with Williams syndrome or Down syndrome. J Speech Lang Hear Research, 53, 950-960.

4. Leung, James S. & Leung, Alexander K. C. (November 23, 2009) Toddler with elfin face, cardiovascular abnormalities, hypercalcemia, and developmental delays. Retrieved 2013, December 14 from

5. Mervis, CB & John AE (2008) Vocabulary abilities of children with Williams syndrome: strengths, weaknesses, and relation to visuospatial construction ability. J Speech Lang Hear Research, 51(4), 967-82.

6. Mervis, Carolyn B. & Velleman, Shelley L. (2011) Children with Williams syndrome: language, cognitive, and behavioral characteristics and their implications for intervention. Perspect Lang Learn Educ., 18(3), 98-107. Published online 2011, October 1. PMCID: PMC3383614. Retrieved 2013, December 6 from

7. Udwin, O., Yule, W. (1990) Expressive language of children with Williams syndrome. American Journal of Medical Genetics Supplement, 6. 108-114.

8. Vaux, Keith K., Wojtczak, Henry, Benirschke & Jones, Kenneth Lyons (2003) Vocal cord abnormalities in Williams syndrome: a further manisfestation of elastin deficiency. American Journal of Medical Genetics Part A (Impact Factor: 2.3) 119A(3). 302-304.

9. Willacy, Dr. Hayley Infantile hypercalcaemia (Williams’ syndrome) Web article last updated 2010, July 16. Retrieved 2013, December 6 from

10. Williams Syndrome Association

11. Williams Syndrome Changing Lives Foundation

Pam portrait_cropPamela Mandell, M.S. CCC-SLP is a certified speech-language pathologist specializing in early intervention as well as the founder of Speak Eazy Apps LLC, a company dedicated to enhancing the speech and language skills of toddlers, preschoolers, children with special needs and young English language learners. She received her M.S. from Hunter College in NY. Pamela currently provides speech and language services for toddlers at a non-profit school in Manhattan as well as home care services for babies, toddlers and preschoolers with special needs. She has over 14 years of experience helping children with autism spectrum disorder, Down syndrome, Williams syndrome, Fragile X syndrome, spinal muscular atrophy, seizure disorder, childhood apraxia of speech, phonological processing disorder, impaired articulation, specific language impairment, feeding issues and more. Her inaugural iPad app “Feed Maxi” just premiered on the App Store and is receiving great reviews by parents and therapists alike. You can connect with Pamela professionally on twitter @pammandellslp or on LinkedIn @  Company website:  Twitter: @speakeazyapps Facebook:

Priya Deonarain, MA, OTR/L, CKTP graduated from NYU with a MA in occupational therapy. She is certified in feeding and oral motor techniques. She is also certified in Kinesio Taping and utilizes NDT techniques during treatment.