Redbridge SERC

Rubenstein-Taybi Syndrome

Description

Rubenstein-Taybi Syndrome is

  •          A rare chromosome abnormality.
  •          A random condition and is generally non-hereditary
  •          Causes developmental delay and specific physical features.

Fact sheets

Training / Help

Access to Outreach Services to support needs that arise 

Videos

Screenshot for video: A family’s view of their child with RTS

A family’s view of their child with RTS

Learning to Speak at Age 18 with a Sister Who Never Quits (Rubinstein-Taybi Syndrome)

Screenshot for video: A medical explanation of RTS

A medical explanation of RTS

  A medical explanation of RTS by DrChetana Sachidanandan including information on current research.

Frequently Asked Questions

  • What activities do children with RTS enjoy?

    Many children enjoy water sports and swimming. 

    They may enjoy assisted horse riding which can help balance. 

    They love books and watching television. Many children enjoy playing outside on bikes, scooters, swings and slides. Sandpits and even soil can be a great source of pleasure.

    They are very responsive to any form of music and many parents have found music therapy a lifeline for education and also for working on behaviour and social skills.

  • Working with children with RTS

    Children with RTS tend to be happy and social, but a small percentage prefer solitary play. They tend to make contact easily and know no strangers.  They can be stubborn and inflexible with their views, but on the whole they are generally co-operative.  They have short attention spans and find it difficult to concentrate. 

    Make learning fun.  Singing instructions or doing things with music make learning more enjoyable for them.  Talking to them or listening to recordings, helps their learning, even if they have no spoken language.

    Speech and Language Therapy should be started as early as possible.  As a small percentage of children will not develop speech, signing should be considered initially as a form of communication as well as visuals and/or symbols.  However, they can often understand much more than they can express.

    They can display autistic traits including rocking, spinning and hand-flapping, but they often grow out of these stimming habits.  They tend to have repetitive behaviour and can get ‘stuck in a loop’.  They may enjoy lining up toys, turning patterned objects the ‘right’ way round and needing to touch things in a certain way or a particular number of times.  As children with RTS get older there tends to be an increase in mood swings, temper tantrums and aggressive outbursts.

    Teaching them requires lots of patience and perseverance.  They work well with routines, but care should be taken to ensure they remain flexible and can cope with change.  They are generally not fond of large or noisy groups.

    They often have very high pain thresholds, so sometimes a change of behaviour may be the only indication there is a problem as they cannot always articulate their pain.

  • What causes RTS?

    It is caused by an abnormality in either chromosome 16 or 22. 

    This is a random condition and is non-hereditary (with the exception of those with Rubinstein-Taybi have a 50% chance of producing a child with the syndrome). 

  • Can anyone have RTS?

    It occurs in all races and equally between boys and girls. 

  • Can other family members have RTS?

    The possibility of producing a second child with the syndrome in the same family is only minimally raised and the chance of this happening is certainly much less than 1%.

  • What are the common characteristics of RTS?

    RTS children have a combination of characteristics rather than all of them.

    •                Learning difficulties, developmental delay.
    •                Affectionate.
    •                Friendly and cheerful characters.
    •                Feeding difficulties (especially as a baby including gastro-oesophageal reflux and vomiting).
    •                Can suffer from constipation
    •                33% suffer from congenital abnormalities of the heart.
    •                90% have speech difficulties – a small percentage will not develop speech.
    •                80% of patients with RTS will have some eye abnormality.
    •                50% of children suffer with ear problems (glue ear).
    •                Facial features - beaked nose, downward-slanting eyes and heavy or highly-arched eyebrows, slightly malformed ears.
    •                Highly-arched palate. 65% suffer from dental problems.
    •                Broad thumbs and big toes (sometimes angulated, which can be corrected surgically).
    •                Smaller than average height.
    •                Microcephaly (small head).
    •                In males - undescended testicles.
    •                Poor/delayed gross and fine motor skills including hand/eye co-ordination, hypotonia and hyper-extensible joints.
    •                Prone to over-eating, this means patients with RTS tend to be overweight.
    •                Can be affected by epilepsy.
    •                Can suffer from sleep apnoea.
    •                Can suffer from keloid formation (overly aggressive healing response to a wound).