September 2017,

Dear CRIBBS Members and Future Members,

I would like to share an update from CRIBBS. This newsletter is prepared by Marilyn Workinger PhD with the able assistance of Jesse Richardson from our Biomedical Informatics Research Center, both members of our CRIBBS team. Marilyn is a speech pathologist with years of experience and Jesse is an amazing applications analyst that keeps CRIBBS a cutting edge patient registry and data repository.

At first glance Marilyn’s insights might seem to focus only on our youngest members of the BBS community but look past that and realize that the contributions of each of you to CRIBBS has permitted us to give sound advice to the generation coming behind us. Each of you has made this research possible. This is the fruit of your efforts.

In the coming months we will have newsletters that will address issues specific to teenagers, young adults and older adults with BBS. So stay tuned. As always we appreciate your participation in CRIBBS. I encourage you to be part of CRIBBS if you are not an active participant. I invite you to sign up at


Marilyn Seif Workinger, PhD

For the BBS newsletter September, 2017

The literature describing Bardet-Biedl Syndrome (BBS) indicates that speech disorders are considered secondary diagnostic features of BBS. Little is written about the communication characteristics or abilities of individuals with BBS. Earliest descriptions of children with BBS noted that speech and language were often very delayed and limited. With the help of individuals enrolled in the Clinical Registry Investigating Bardet-Biedl Syndrome (CRIBBS) project, we are able to better describe the communication abilities of people with BBS. We have gathered information about multiple aspects of communication including development of speech and language milestones, articulation abilities, voice characteristics and use of social communication.

We have learned that there is a wide range of communication ability, from individuals with typical communication skills for age level to individuals who have significant communication delays and disorders. In a review of CRIBBS data for 295 individuals, we have learned that 68% have received speech and/or language therapy at some time. Not all individuals have the same type or combination of communication disorders.

Developmental milestones for receptive (understanding) and expressive (spoken) language skills are delayed for some individuals:

71% understood their name and other single words before one year of age

47% spoke their first word(s) before one year of age

42% put two words together before two years of age

82% of individuals age three and older are able to speak in sentences

Articulation skills (how we produce the sounds of words) are a problem for at least half of individuals with BBS:

55% of individuals older than 8 years of age indicate that there are speech sounds that are difficult to say

52% of individuals older than age 5 are not easily understood by people who are unfamiliar with their speech patterns

59% of individuals older than age 3 become frustrated when not understood

Some voice differences are also present:

28% have a voice pitch that is considered too high for their age and sex

9% have a voice pitch that is considered too low for their age and sex

22% have a nasal voice quality

16% have a breathy voice quality

Development of social communication is sometimes limited or delayed:

67% of individuals greater than age 4 can engage in "small talk", e.g., asking "how are you?", etc.

68% of individuals greater than age 3 can take turns in conversation

Of the information presented above, it is very encouraging that 82% of individuals in this group were able to speak in sentences and 68% were able to take turns in conversation by age 3. It is also encouraging that by age 8, 45% did not have difficulty producing speech sounds.

What can be done to encourage speech and language development? There are three things that are very important to development of production of speech sounds and words. First, the child must be able to hear the sounds and words. Secondly, they must understand the words before the words can become a meaningful part of their functional vocabulary. Third, they must learn that when they use words, they can relay information to a listener and get a response.

Below are some ideas to promote development of speech and language skills. It is not necessary to set aside a special time for this. You can engage in speech and language activities anywhere and anytime – even while waiting in waiting rooms for appointments!

For very young children and individuals with limited vocabulary and speech:

1) Be sure that your child’s hearing is adequate (more on that subject in a future newsletter).

2) Talk about what you are doing and seeing all day long. Use greetings and other social language. Children understand words before they become a permanent part of their vocabulary. For example, during bath time, talk about water, bubbles and body parts.

3) Imitate your child’s facial expressions and sounds. Encourage them to imitate you. Make it a game.

4) Maintain eye contact as much as possible when you are speaking. In addition, encourage the child to look in the direction of an activity or object you are describing,

5) Play games that encourage interaction and imitation, e.g., peek-a-boo and pat-a-cake.

6) Encourage gesture language, e.g., waving bye-bye and pointing to desired objects. Be sure that you use vocalizations along with these gestures, e.g., "Car, you want the car!"

7) Begin to read simple books. For first books, this could be books with a large picture of a single object or animal per page.

For children who have some words and beginning phrases:

1) Work on building understanding vocabulary by continuing to talk to your child. Use clear speech. Try not to use baby-talk. Talk about what is happening, who and what you are seeing. In addition to naming people, objects and activities, introduce words that describe, e.g., hot, cold, up, down, under, big, little, etc.

2) Expand what the child says. For example if the child says "Doggie", you could say "Yes, doggie outside" or "Doggie is barking".

3) Try not to correct the way the child says a word directly, rather, provide a correct model right after they have said the word incorrectly. For example if the child says "oat" for "boat", you might respond with "I see the BOAT". "BOAT".

4) Sing simple songs and encourage your child to participate with sound and gestures, e.g., Itsy Bitsy Spider. Continue to sing even if they don’t participate.

5) Continue reading to your child. With early story books, look at the pictures and "tell" the story in your own words rather than just reading the words under the pictures.

6) Limit "electronics" time. If your child watches a program or listens to a book, watch and/or listen with them when you can and comment on what is happening or ask questions. Encourage them to use their words to describe what is happening in the program.

For older individuals with phrases and sentences:

1) Encourage appropriate use of social language, e.g., "Hello" or "Hi", "Excuse me", etc.

2) Be careful to encourage verbalization rather than falling into silent routines. Give choices that encourage use of words, e.g., "Do you want your red shoes or your brown shoes?"

3) Continue to talk about what is happening and what you think your child may be thinking, e.g., "This storm sounds kind of scary, but I don’t think we need to worry". Or, "I think this is really funny, what do you think?" Allow time in the conversation for them to respond – even if they typically do not.

4) Provide language learning experiences and follow-up with real experiences, e.g., read about fire trucks and then take an opportunity to look at one up close at a community event.

5) Try to give your child your undivided attention when they want to speak with you.

Remember: Children hear words many times before they understand, imitate and produce them meaningfully. Keep talking!!

Dr. Bob Haws

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