Congenital suprabulbar palsy

Original Editor - User Name Top Contributors - Anna Fuhrmann and Kim Jackson

Original Editor - User Name

Top Contributors - Anna Fuhrmann and Kim Jackson  

Introduction[edit | edit source]

Congenital suprabulbar palsy describes an assortment of symptoms occurring in infants and children, which can be caused by a variety of cerebral disorders. The aetiology might be related to "anoxia or ischaemia to the developing brain"[1]. Disorders associated with congenital suprabulbar palsy include the Congenital Bilateral Perisylvian Syndrome (CBPS) and Worster-Drought Syndrome (WDS; see below). Congenital suprabulbar palsy diseases are very rare.

Clinic[edit | edit source]

Researchers found that in addition to CBPS, which is a neuronal migration disorder, symmetrical infarcts in the perisylvian region might also be a possible cause of congenital suprabulbar palsy.[1]Diagnosis is made by patient history, clinical examination and magnetic resonance imaging.[2]

Symptoms[edit | edit source]

Key symptoms are severe dysarthria, drooling, problems of feeding and swallowing. [1] Affected infants and children are not following the normal speech development stages, resulting in articulating problems, which is the lead symptom to be found for congenital suprabulbar palsy. Epilepsy has been found as a clinical sign, although it is not consistent with all forms of congenital suprabulbar palsy.[1]

Differential diagnostics[edit | edit source]

Since the symptoms of congenital suprabulbar palsy are caused by damages within the perisylvian region, bilateral perisylvian polymicrogyria must be ruled out. This disease however includes more severe episodes of epilepsy.[2]

The non-congenital form of suprabulbar palsy (progressive suprabulbar palsy or PSP) is a rare disease which manifests in adults. It can be mistaken for a Parkinson's syndrome, as it occurs later in life but shows similar symptoms. [3]

Treatment[edit | edit source]

Treatment should be realized multidisciplinary between paediatrician, speech therapist, psychological education therapists and physiotherapists.[2] There is no specific pharmaceutical treatment, as the impairment can be caused by a multitude of cerebral diseases. Therapy and exercises are the main pillars in helping the affected children adapt to their impairment and integrate into their social surrounding best (see Relevance in physiotherapy below).

Worster-Drought Syndrome (WDS)[edit | edit source]

One form of congenital suprabulbar palsy is Worster-Drought Syndrome. It is distinguished by "agenesis or hypogenesis of corticobular tracts, affecting voluntary movements of the lips, tongue, soft palate, pharyngeal, and laryngeal muscles, while sparing involuntary activities such as smiling"[1]. With a slight predominance in boys, the prevalence ranges around 1/25,000 to 1/30,000 with a mean diagnosis age of 6.[2] Very early diagnosis proves to be difficult, as the impaired development of speech is one of the symptoms. First signs are often the inability to breastfeed or difficulties swallowing.

The video below is shows a collage of pictures of a child with WDS, including explanations about symptoms and difficulties in their families daily life.


Relevance in physiotherapy[edit | edit source]

Facial muscles, as well as muscles related to articulation and swallowing, need to be trained as these are the ones most impaired. Speech therapy and physiotherapy should work in parallel to realize the best possible development. Efforts to coordinate between teachers, parents and therapists is essential to ensure the best care and support to the affected children.

Exercises, which carefully need to be adjusted to the child's/patient's capabilities, might include:

  • Encouraging facial movement by exaggerated facial expressions (especially in infants)
  • Practising continuous small swallows
  • Allowing for the child to feel and discover shapes of different (clean and non-swallowable!!!) objects in their mouth, while also allowing them to experience their form with their fingers
  • Singing or humming to strengthen throat muscles
  • Using the child's fingers or an electrical toothbrush to stimulate innervation and sensitivity of the lips, the tongue and the periphery of the mouth

References[edit | edit source]

  1. 1.0 1.1 1.2 1.3 1.4 Poovathinal A Suresh, Cherukunnathu Deepa. Congenital suprabulbar palsy: a distinct clinical syndrome of heterogeneous aetiology. Developmental Medicine & Child Neurology. 2004; 46:617–625.
  2. 2.0 2.1 2.2 2.3 Orphanet, the portal for rare diseases and orphan drugs. Worster-Drought syndrome. Available from:https://www.orpha.net/consor/cgi-bin/Disease_Search.php?lng=EN&data_id=3046&Disease_Disease_Search_diseaseType=ORPHA&Disease_Disease_Search_diseaseGroup=3465&Disease(s)/group%20of%20diseases=Congenital-suprabulbar-paresis&title=Congenital-suprabulbar-paresis&search=Disease_Search_Simple (last accessed 2 November 2021).
  3. Johns Hopkins Medicine. Progressive Suprabulbar Palsy. Available from: https://www.hopkinsmedicine.org/health/conditions-and-diseases/progressive-supranuclear-palsy (accessed 2 November 2021).