About our NAA10 superstars

Currently our children's mutations to the NAA10 gene are so rare that the diagnosis can often be referred to differently by different doctors or from country to country and can be diagnosed with variations to the terminology. NAA10 syndrome may also be diagnosed as Ogden syndrome, N-terminal deficiency syndrome or NAA10 related syndrome.
 

Our original Ogden families' diagnosis was described in a publication by our genetic specialist as "a variable phenotype including postnatal growth delay, severe global developmental delay, hypotonia, non-specific dysmorphic faces with aged appearance and cryptorchidism, as well as cardiac arrthymias and skeletal anomalies. These children typically presented with widely opened fontanels, mainly truncal hypotonia, a waddling gait with hypertonia of the extremities, small hands and feet, broad great toes, scoliosis and redundant skin with lack of subcutaneous fat." 

More recently, the past few years as a result of genetic testing advancements, more cases have been diagnosed and a more recent paper that studied and included many of our children from our community stated the main features of NAA10 syndrome "includes developmental delay, severe intellectual disability, postnatal growth failure with severe microcephaly, and skeletal or cardiac anomalies".

Common ocular findings in our children can include one or more of the following:

  • Astigmatism

  • Hyperopia

  • Cortical vision impairment (CVI)

  • Microphthalmia/anophthalmia

  • Hypertelorism.

Our beautiful and amazing children with these mutations can have quite a bit of variation but can present with a range of the following Clinical features:

Common:

  • Variable levels of intellectual disability

  • Moderate to severe developmental delay

  • Speech disorder including complete absence of speech, delayed language development, or other speech difficulties

  • Cardiac anomalies or Long QT syndrome

  • Seizures

  • Autistic spectrum disorder and challenging behaviour

  • Feeding/swallowing difficulties

Other :

  • Sensory processing disorder

  • Hyperactivity

  • Growth restriction

  • Impaired motor function, including fine motor difficulties,
    abnormality of movement, motor delay and hypotonia

  • Bone abnormalities (including pectus carinatum,
    extra rib or leg length discrepancies)

  • Dysmorphic facial features (warning includes beautiful eyebrows!)

  • Cutis mamorata (mottled skin)

  • Very sociable and happy

But they all are very determined and have a cuteness that is second to none!

What helps our children?


If your child has just been diagnosed then its important they have heart testing if this has not already been arranged. Eye tests will also be helpful. 

 

The most important thing you can do to get the right help for your child is give them as much interaction and early intervention via therapeutic input as you can. Depending on your child’s current level of difficulties, you may find the following interventions an essential part of their development progression:

 

  • Physiotherapy and Hydrotherapy

  • Speech and language therapy including use of AAC and/or communication system such as a Picture Exchange Communication System. Many of our children understand speech supported by signing too.

  • Occupational therapy

  • Sensory integration therapy

  • Hippo therapy (therapy on horse back -many of our children love to ride!)

  • Music and pet therapies

 

Above all love, patience, care, understanding and fun experiences will ensure your little NAA10 loved one has all they need.

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© NAA10 Families Together 2020