PVL and Angelman Syndrome

neonate-air-ambulance

I wanted to carry out some self study into a few conditions I have come across during volunteering at Racerunning. I think that it’s important to have a knowledge of these conditions in order to understand the children’s different needs. This is particularly important to understand levels of ability and to gauge levels of fatigue.

Carrying out self study is a vital part of being a student physio in order to prepare for placement and develop as a physio. There are such a wide range of paediatric conditions that it is impossible to learn everything but carrying out self study when you come across a condition, is a great way to increase your knowledge.

Periventricular Leukomalacia (PVL)

Periventricular – near ventricles

Leuko – white matter

Malacia – softening

PVL is a condition diagnosed in babies where the white matter in the brain close to the cerebral ventricles becomes soft and damaged.

brain-ventricles

The degree and type of impairment will depend on the area of the brain that is damaged. Damage can occur near the Basil Ganglia and Cerebellum which will affect movement.

More than 60% of infants with PVL are diagnosed with Cerebral Palsy.

Neonate-3

PVL tends to be more common in premature babies born earlier than 32 weeks and weighing less than 3.3lbs. This could possibly be due to the brain tissue being more fragile. The exact cause is unknown but risk factors include:

  • Ventilated neonates – at greater risk of hypotension, hypoxaemia, acidosis, and hypocarbia which could cause brain damage
  • Twin gestation
  • Antepartum haemorrhage
  • Birth complications – ruptured uterus, caesarean, foetal distress (risk of hypoxaemia and hypotension)
  • Anything that can limit oxygen and blood supply to the brain

PVL can be difficult to diagnose in a neonate and sometimes diagnosis comes later. Cranial ultrasounds, MRI and CT scans can be used to diagnose. Medical history can identify those at risk who should be tested 30 days after birth.

Common symptoms include spastic diplegia and contractures. Babies may have difficulty with sleeping and eating due to poor positioning. Severe PVL may be associated with quadriplegia. Seizures, spontaneous rapid eye movements (nystagmus) or a squint (strabismus) are common.

References:

https://www.scope.org.uk/support/families/diagnosis/pvl

http://cerebralpalsy.org/about-cerebral-palsy/cause/periventricular-leukomalacia/

Angelman Syndrome (AS)

“Angelman Syndrome is not a disease, it is a neurological disorder that causes severe learning difficulties”  

(http://www.angelmanuk.org/angelman_syndrome.html)

AS is a genetic disorder which results in a number of similar presenting characteristics. It is most commonly the result of a change, loss or mutation of a particular gene ( UBE3A). In 70% of cases, the child’s maternal copy of the UBE3A gene is missing, which means there’s no active copy of the UBE3A gene in the child’s brain.

AS is a relatively rare condition with 1 case in 10,000/20,000 babies born.

A blood test can confirm diagnosis. The typical characteristics of Angelman Syndrome are also an indicator. Most children are diagnosed between the ages of 3 and 7 years of age.

Typical characteristics of Angelman syndrome include:

  • delayed development (usually noticeable from 6-12 months of age)
  • severe language impairment with little or no speech
  • movement and balance problems (ataxia)
  • frequent seizures (epilepsy) in around 85% of cases
  • a small head size (microcephaly)
  • sociable behaviour with frequent smiling

Other characteristics of AS that are commonly seen are:

  • sticking the tongue out
  • crossed eyes (strabismus)
  • pale skin, and light-coloured hair and eyes
  • a wide mouth with widely spaced teeth
  • a side-to-side curvature of the spine (scoliosis)
  • walking with arms in the air
  • a fascination with water

Babies can have problems feeding and suffer reflux.

as

This is a photo of Charlie who has been diagnosed with AS. Find more information on Charlie’s story by clicking on the link below.

http://www.take-flight.org/charlies-story/charlie-s-diagnosis.aspx

Although AS has an impact on a child’s development, it does not have an effect on the length of lifespan. With support the expected lifespan of a child with AS should be normal.

There is a great video providing an introduction to Angelman Syndrome on the Assert website. Assert is the Angelman Syndrome Support and Research Trust. Find the link below.

References:

http://www.angelmanuk.org/angelman_syndrome.html

http://www.nhs.uk/conditions/angelman-syndrome/Pages/Introduction.aspx

http://ghr.nlm.nih.gov/condition/angelman-syndrome

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