What causes FOXP2 disorder?

FOXP2 is a gene which has important functions for the

Families say ...
development of the brain. A disruption or absence of one
gene copy results in difficulties in the acquisition of speech  When you have a child that has difficulties in everyday
and language. life it makes them that little bit more special! 

Why did this happen?

In many families, the genetic change affecting FOXP2
happens out of the blue (de novo). When children are
 He is an extremely happy boy and interacts with
conceived, the genetic material of the parents is copied in
everyone and has done since he was a newborn.
the egg and sperm that makes a new child. The biological The major area of his development that has been
copying machine is not perfect and occasionally random affected is his speech and language. He understands
rare changes occur in the genetic code of children that are everything we tell him; however, he cannot express
not seen in the DNA of their parents. This happens naturally himself with speech which, at times, frustrates him a lot.
in plants and animals and is not due to your lifestyle or At 3½ years he has a couple of words he can clearly say
anything you did. In some families, one parent has the same (‘mum’ and ‘juice’, ‘choo choo’ for train) and a couple of
FOXP2 change and has transmitted this to the child. words he can try to say (e.g. tree he pronounces as ‘ee’
Can it happen again? and car as ‘ar’). In general he communicates via 'babble'
talk, pointing and taking someone’s hand to show them.
The probability of having another child affected by a rare
gene disorder depends on the genetic code of the parents. We also try to use a handful of Makaton signs. 
For FOXP2 defects where parents do not carry the mutation,
the chance of having another affected child is very low. If
genetic analyses of the parents show that one of them
What is FOXP2 related
carries the same variant, the chance of it happening again is Inform Network Support
much higher. Each family situation is different and a clinical Rare Chromosome Disorder Support Group, speech & language
geneticist can give you specific advice for your family. The Stables, Station Road West,
Management: Oxted, Surrey RH8 9EE, UK disorder?
Tel: +44(0)1883 723356
General paediatricians should oversee care, so that
development and behaviour can be monitored and the best
[email protected] I www.rarechromo.org
Gene reviews article:
rarechromo.org
therapies can be given early. Speech sound development
and language abilities should be assessed by a speech https://www.ncbi.nlm.nih.gov/books/NBK368474/
therapist to determine the nature of a child’s
This guide is not a substitute for personal medical advice. Families
communication strengths and challenges and how to best
should consult a medically qualified clinician in all matters relating
support their needs and development. Every child’s to genetic diagnosis, management and health. Information on genetic
communication profile is different and no single treatment changes is a very fast-moving field and while the information in this
exists. Instead, treatment and management approaches guide is believed to be the best available at the time of publication,
will depend on the type and severity of a child’s difficulties. some facts may later change. Unique does its best to keep abreast of
This may include intensive speech sound therapy and/or changing information and to review its published guides as needed.
This guide was written by Dr Christiane Zweier and Dr Miriam Reuter,
augmentative and alternative communication (AAC) options Institute of Human Genetics, FAU, Erlangen, Germany. This guide
tailored to an individual child’s needs. was updated by Olivia van Reyk and Prof. Angela Morgan, speech and
Other health professionals such as clinical psychologists language pathologists from the Murdoch Children’s Research
(for learning difficulties), physiotherapists (for whole body Institute (MCRI) and University of Melbourne, Australia.
2017 Version 1 (PM/CA)
movement challenges such as learning to ride a bike), 2019 Version 2 (AP)
occupational therapists (for fine motor challenges such as Copyright © Unique 2019
writing) can provide strategies to help with other specific
Rare Chromosome Disorder Support Group Charity Number 1110661
problems a child may have. Registered in England and Wales Company Number 5460413
What is FOXP2 related Chromosome Most people have: Development
speech & language Delayed speech development Growth
disorder? Motor speech disorder (childhood apraxia of speech) Almost all babies are average in
FOXP2 is a gene on weight at birth and continue to
chromosome 7q31.1, which was Expressive and/or receptive language difficulties
grow along their centile lines.
first found to be linked with Cell Reading and spelling difficulties
speech and language disorders Feeding
Normal or low average IQ Some babies have early feeding
in 2001. Affected individuals
were noted to have childhood Gene Normal organ functions difficulties due to their poor oral
apraxia of speech (CAS), which Children with the FOXP2-plus genetic condition, involving motor functions. Dribbling can
is a speech disorder that results DNA a deletion or duplication disrupting genes that neighbour be a problem for many children
in difficulties in the planning 9 years
FOXP2, may have associated learning, behavioural or but this can be helped by
and production of sounds and words. Some also have social skill challenges. medicines to reduce the saliva.
problems with reading and spelling or learning
Sitting, moving and walking
difficulties. Some individuals have a disruption of the Medical concerns
FOXP2 gene only, and some have a more complex Gross motor development is normal in many children
 Childhood apraxia of speech with only FOXP2 defects. Some children may have fine
genetic alteration that involves additional genes (e.g.,
FOXP2 deletion or duplication). Hence the associated Young children with FOXP2-only gene changes often have motor difficulties (e.g. buttoning clothes, tying shoelaces).
genetic conditions are known as ‘FOXP2-only’ and delayed speech development. From around age three Fine or gross motor problems are reported as relatively
‘FOXP2-plus’, respectively. The genetic alteration years, when they have developed enough speech for a mild compared to the marked speech production deficits.
determines whether speech and language problems are thorough speech therapy assessment, most children are If it is noted that a child is late in becoming mobile or
seen in relative isolation, or whether more general diagnosed with a speech disorder, called childhood having problems with fine motor skills, physiotherapy or
developmental issues across a range of areas are likely apraxia of speech (CAS). CAS is a motor speech planning occupational therapy can be useful.
to be present as well. problem affecting a person’s ability to accurately
Speech
sequence sounds into syllables, syllables into words and
Can it be cured? Speech development is the major concern in FOXP2
There is no cure for FOXP2 defects, as the effects of the words into sentences with the correct timing and rhythm.
defects, with the primary speech diagnosis of childhood
genetic change took place during your baby’s As a result speech can be very difficult to understand,
apraxia of speech. Some children may also have
development. However, knowing this diagnosis means particularly in the early childhood and primary school
dysarthria. Most children need considerable speech
that appropriate monitoring and therapies (e.g. speech years. Speech development and intelligibility does
therapy and support.
therapy) can be put in place for your child. improve over time, but ongoing management and
evaluation is recommended in most cases. Language
Families say ... Some individuals may experience problems in expressive
 Learning
(using spoken language) and/or receptive (understanding
Many children have normal
 She has completed our family. She has shown us spoken language) domains.
or low average IQ, and
all how to stay positive and be proud of everything nonverbal IQ is often higher Learning
you do no matter how small. She makes me smile than verbal functions. People Nonverbal (performance) IQ is typically normal or low
everyday! She is a delightful child and never lets her with FOXP2 defects often average. Some children need support with their learning
condition get her down. have reading and spelling (for example reading and spelling abilities) and may need
We noticed when she was around 1 1/2—2 years old difficulties. to attend a special school where the right support can be
that she was not speaking as much as her brother given.
and sister did at that age. She is now 7 years old and
 Healthy organs
No malformations of organs Behaviour
able to put three or four words together. On the whole, children are sociable and have a friendly
(for example heart, kidneys,
She is able to follow commands without any character. Autistic traits have only been noted
problem. We try to take the time to listen to her and brain) are associated with
FOXP2 defects. 4 years infrequently and only in children with the FOXP2-plus
not speak for her, even if it is time-consuming.  condition involving neighbouring genes to FOXP2.