Pierre Robin Syndrome, Narcolepsy and Traumatic Brain Injury

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21st Sep 2017 Health Reference this

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Pierre Robin Syndrome

Pierre Robin Syndrome is usually referred to “Bird Face”. This condition was initially regarded as a single clinical entity but is now considered to characterize a specific result of an abnormal developmental process. Pierre Robin Syndrome’s exact cause is unknown. There is no connection between the activities of a mother that causes her baby to have this disorder (International Craniofacial Institute, 2014, n.p.). For paediatricians, the main short-term issues that need treatment are for breathing and feeding.

Symptoms

  • The lower jaw is abnormally small.
  • Long tongue which causes its tongue to block the airway.
  • Cleft palate
  • Repeated ear infections

Interventions (Children’s Hospital of Wisconsin, 2013, n.p.):

  • Tongue-lip adhesion which is a temporary stitch of the tongue to the lip below. It heaves the tongue frontward to avoid obstruction on the airway.
  • Mandibular distraction is a procedure to cut the lower jaw as pins are on the bone on either side. This technique corrects asymmetric jaws of patients. It pulls out jaws of patients with obstructive sleep apnea especially for those who suffer PRS.
  • Tracheostomy is applicable if the first two ways don’t work. This is a surgery creating a hole through the neck going to the trachea. This serves as a passage of air for breathing.

In the long run, speech defect and palatal dysfunction are the effects. By 3 years old, most children with this disorder are taking an oral diet and do not have major difficulty in breathing if proper intervention in earlier years took place (Burton, 2010, para.17).

Narcolepsy

Narcolepsy is a disorder of having too much sleepiness during the day. It is also associated with abrupt temporary muscle weakness or cataplexy. According to a research in 2013, 1 out of 2000 people experience this disorder (UK Health Centre, n.p.). A cause of this disorder is the lack of neurotransmitter hypocretin (orexin). This is usual in the cases of narcolepsy with cataplexy. Another cause is the combination of genetics and impact of surroundings, such as hormonal imbalance, trauma, immune system problems, or stress. Narcolepsy is a life-long illness, but it does not persistently worsen. Over the time, its symptoms gradually decrease but they never totally disappear. As for adults, cataplexy lessens, but sleep disturbances can get worse. Below are the symptoms of Narcolepsy (University of Maryland Medical Centre, 2012, n.p.).

Main Symptoms:

  • Easiness to sleep during daytime even in an uncomfortable pose and few hours if they are lying down.
  • 3 or 4 hours of drowsiness at daytime that often ends in short naps.
  • Drowsiness isn’t noticed by the patient and they cannot clearly remember their behaviour at those times.

Other Symptoms:

  • Atonia is a condition of a sleeping person where he or she is conscious but cannot talk, move and while breathing deeply.
  • Hypnagogic Hallucinations. These are dreams that come to mind during the onset of sleep which usually happen for 30 seconds maximum.
  • Periodic Limb Movement Disorder. A condition where the leg muscles contract every 20 – 40 seconds as the patient sleeps.

Interventions (National Sleep Foundation, 2013, n.p.):

  • Light therapy helps keep a regular sleep and wake timetable. The patient is to sit in front of a light box flashing special lights for 10 to 30 minutes. The patient will somehow avoid feeling sleepy in the morning.
  • Behavioural therapy – aims to relieve symptoms. With this therapy, patients should avoid heavy meals and alcohol given that these can disturb or induce sleep.
  • Diet Therapy – For two months, patient is put on a low-carbohydrate ketogenic diet (LCKD) wherein there is a reduction on the intake of wheat flour and grain. The effect of this therapy results to 18% reduction on afternoon sleepiness.
  • Positive Pressure Therapy – This type of therapy is usually prescribed to patients with sleep apnoea. During this treatment, it soothes the airway through therapeutic pressure. It uses a machine that can be used before sleeping.

Traumatic Brain Injury

Traumatic Brain Injury takes place when a sudden trauma results damage to the brain. It is caused by a sudden, hard blow or bump to the head. The damage is classified to focal and diffuse. Focal Injury is damage focused one part of the brain while Diffuse Injury involves more than one part of the brain. Its symptoms may not show until days or weeks after the injury. It usually causes headache or neck pain, vomiting, ringing in the ears, vertigo, and fatigue. Below are other symptoms that may arise (Alzheimer’s Association, 2013, para.6):

Symptoms

  • Concussion
  • Worsening headache and it does not go away
  • Nausea
  • Convulsion or seizures
  • Helplessness to awaken from sleep
  • Inaudible speech
  • Weakness or numbness in some parts of the body
  • Dilated eye pupils

Long term problems that may arise:

  • Alzheimer’s disease – is a neurological disease in which the brain cells doesn’t function anymore which results to memory loss and cognitive turn down.
  • Parkinson’s disease – It is a progressive disease of the nervous system that affects the motor movements. It usually starts with a tremor in just one hand. It also causes inflexibility and slowing of movement.
  • Dementia – decline and loss of intellectual functions such as thinking, memory, and logic that is severe enough to hamper with a person’s every day functioning. It is usually caused by repetitive hit to the head.

Interventions (Brain Injury Association of America, n.d., n.p.):

  • Acute Rehabilitation – Skilled health professionals will help a patient to regain strengths in doing activities for everyday life. These activities pertain to eating, toileting, walking, dressing, speaking and others.
  • Post-acute Rehabilitation. Helps patient recover his or her overall functioning. It restores a body’s natural healing abilities.
  • Sub-acute Rehabilitation – intended for those who require a milder level of treatment services for a longer period of time. This is also appropriate for patients who have made improvement in the acute rehabilitation programs and continue to progress.
  • Day Treatment- offers treatment in a prearranged group setting during the day and lets the patient to go back home at night.

References

Alzheimer’s Association (2013).Traumatic Brain Injury | Signs, Symptoms, & Diagnosis. RetrievedFebruary2, 2014, from http://www.alz.org/dementia/traumatic-brain-injury-head-trauma-symptoms.asp>

Brain Injury Association of America (n.d.).Brain Injury Treatment – BIAA. RetrievedFebruary1, 2014, from http://www.biausa.org/brain-injury-treatment.htm>

Burton, C. (2010, April 20). Pierre Robin Sequence | Doctor | Patient.co.uk. Retrieved February 2, 2014, from http://www.patient.co.uk/doctor/Pierre-Robin-Syndrome.htm>

Children’s Hospital of Wisconsin (2013). Fetal Concerns Center of Wisconsin: Micrognathia and Pierre Robin Sequence. Retrieved February 2, 2014, from http://www.chw.org/display/PPF/DocID/35570/Nav/1/router.asp

International Craniofacial Institute (2014, January 27). Pierre Robin Sequence | International Craniofacial Institute. Retrieved February 2, 2014, from http://www.craniofacial.net/conditions-pierre-robin>

National Sleep Foundation (2013).Narcolepsy Symptoms, Treatment & Remedies – National Sleep Foundation. RetrievedFebruary1, 2014, from http://www.sleepfoundation.org/article/sleep-related-problems/narcolepsy-and-sleep>

UK Health Centre (2013). Narcolepsy. Retrieved February 2, 2014, from http://www.healthcentre.org.uk/sleep-disorders/narcolepsy.html>

University of Maryland Medical Center (2012, September 29). Narcolepsy | University of Maryland Medical Center. Retrieved February 2, 2014, from http://umm.edu/health/medical/reports/articles/narcolepsy>

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