Showing posts with label Congenital disorders. Show all posts
Showing posts with label Congenital disorders. Show all posts

Wednesday, 30 July 2014

NOCTURNAL ENURESIS: PRIMARY NOCTURNAL ENURESIS AND SECONDARY NOCTURNAL ENURESIS; CAUSES; TREATMENT AND MANAGEMENT; BEDWETTING ALARM

OVERVIEW

Nocturnal Enuresis is the involuntary release of urine while asleep at night after the age at which it is supposed to have stopped and bladder control occurred. It is also known as Night-time Urinary Incontinence or Night-time bedwetting, and people who bedwet are referred to as Enuretics or Bedwetters.



There are 2 types of Nocturnal Bedwetting:
  • Primary Nocturnal Enuresis (PNE)
  • Secondary Nocturnal Enuresis (SNE)

PRIMARY NOCTURNAL ENURESIS (PNE)

This is when a child has not yet had a prolonged period of not bedwetting. Here, the bedwetting occurs from infancy. It is the most common type of bedwetting among children and is viewed as a delay in maturation of the nervous system.
According to the National Sleep Foundation, between 13-20% of 5-year-old children, 10% of 7-year-olds, and 5% of 10-year-old children still wet the bed. Even at age of 16, 1% of boys and girls bedwets about once or twice in 3months

CAUSES 

Notable causes of PNE include:
1.     Genetics: PNE is strongly linked to genetic make-up. Children whose parents were not bedwetters have only a 15% chance of bedwetting. But when one or both parents were bedwetters, the chances jump to 44% and 77% respectively

2.     Inability to recognize the sensation of a full bladder during sleep: This is usually due to an immature nervous system

3.     Inability to hold urine for the entire night: This may be due to a small bladder. Also, studies have shown that bedwetters have an increased bladder tone (unintentional contraction of the muscles of the bladder) which functionally decreases bladder capacity

4.     Production of a large amount of urine during sleep: This is usually due to insufficient production of the *Anti-diuretic Hormone (ADH)*. During sleep, the body increases the level of ADH to signal the kidney to produce less urine. When this doesn’t happen, bedwetting may result

*ADH (Vasopressin): This is a hormone that helps the body retain water. It is released when the body is dehydrated or in low activity causing the kidney to conserve water.*

5.     Poor/Unhealthy daytime toilet habits: Many children habitually ignore the urge to urinate and put off urinating as long as they possibly can. Parents are familiar with the “potty dance” characterized by leg crossing, face straining, squatting and groin holding that children use to hold back urine

SECONDARY NOCTURNAL ENURESIS:

This is when a child or adult bedwets again after being dry for a period of at least 6months. It is mostly a sign of an underlying medical or emotional problem. 

Secondary Nocturnal Enuresis

CAUSES

Notable causes of SNE include:

  • Urinary tract infection: A urinary tract infection can make it difficult to control urination. Signs and symptoms may include daytime bedwetting, frequent urination, bloody urine and pain during urination.
  • Diabetes: People with type I diabetes have a high level of sugar (glucose) in the their blood. Consequently, the body increases urine output. Frequent urination is a common symptom of diabetes.
  • Structural or anatomical abnormality/Neurological problems: An abnormality in the organs, muscles, or nerves involved in urination can cause incontinence or other urinary problems that could show up as bedwetting.
  • Emotional problems/Stress: This may include parent conflict or divorce, arrival of a new baby, moving to a new town, sleeping away from home, starting a new school, or loss of a loved one or pet. Children who are being physically or sexually abused sometimes begin bedwetting.
  • Chronic constipation : When the bowels are not regularly and adequately emptied, it puts pressure on the bladder
  • Sleep apnea: Sometimes, bed-wetting could be a sign of Obstructive Sleep Apnea (OSA), a condition in which breathing is interrupted during sleep
  • Excessive fluid intake.

TREATMENT AND MANAGEMENT

NOTE: Most of the measures discussed here is best for tackling PNE. SNE is best approached by treating the underlying medical condition

Most times, children outgrow bedwetting on their own. If there is a family history of bedwetting, the child will probably stop bedwetting around the same time the parent(s) stopped bedwetting. So, a wait-and-see approach is usually recommended until the child is at least 6 or 7years old

However, treatment is recommended when the child is especially bothered or embarrassed by the condition.

Treatment and management procedures include:
  • Using bedwetting alarms: These are small battery-operated devices connected to a moisture sensitive pad on the child’s night wear. When the pad senses wetness, the alarm goes off! Ideally, bedwetting alarms sounds just as the child begins to urinate – in time to help the child wake, stop the urine flow, and get to the toilet to expel it. But if the child sleeps deeply, another person may need to listen for the alarm.
    Bedwetting alarms are highly effective, carry a low risk of relapse or side effects and may provide a better long-term solution
  • Using absorbent underwears/underpants: These help reduce embarrassment for bedwetters and make cleanup easier. They are known as “training pants” or “diapers” when used for younger children  and as “absorbent underwear” or “incontinence briefs” when marketed for older children and adults. They are ideal for bedwetters wishing to spend night-outs or go camping
  • Using waterproof mattress pads: This also ease the cleanup of bedwetting episodes. But, they only protect the mattress while the sheets, clothes and even a sleeping partner may be soiled
  • Others: 
    • Reassuring the child that bedwetting is a normal part of development and that he/she will eventually outgrow it
    • Limiting the amount of fluids the child drinks right before bed
    • Making sure the child urinates before going to bed
    • Avoiding caffeine, which can act as a diuretic (a substance that promotes the production of urine), especially in the evening
    • Waking the child to urinate during the night, before the time that he/she would usually wet the bed
  • Medications: As a last resort (because of their accompanying side effects), medications may be prescribed by a doctor to treat bedwetting.

    These medications and their aims include:

    • Slowing night-time urine production: Drugs such as Desmopressin acetate (DDAVP) – the synthetic replacement for ADH – causes the body to make less urine at night. It can cause seizures especially when the child has a headache, has vomited or feel nauseous, or drinks a lot of water with it.
    • Calming the bladder: Antichorlinergic drugs like Oxybutynin or Hyoscyamine helps reduce bladder contractions, consequently increasing its capacity. Side effects may include dry mouth facial flushing 
    • Changing the sleeping and waking patterns of a child: Anti-drepressant drugs such as imipramine or amitrityline treat bedwetting by changing a child’s sleeping and waking pattern. Side effects include mood changes and sleep problems

Wednesday, 17 July 2013

MICROGNATHIA (Small lower jaw)

 Micrognathia is also known as Micrognathism or Mandibular Hypoplasia. It is a condition in which the lower jaw is unusually small. It is mostly found in babies, children and some adults.


Children may be born with this condition or it can appear later on. In most cases, as the child grows  older and approaches puberty, the jaw grows bigger and normalizes. But in some other cases, micrognathia may persist into adulthood. 

In severe cases, micrognathia can prevent the child from feeding properly. It also causes the teeth not to align normally as they begin to emerge.

Micrognathia is usually a sign of a genetic syndrome or condition. These syndromes may be inherited or caused by genetic mutations.

Some of the syndromes that cause micrognathia are:

·        Progeria

·        Trisomy 13
·        Trisomy 18
·        Cri-du-chat syndrome
·        Achondrogenesis
·        Pierre Robin syndrome
·        Treacher Collins syndrome
·        Marfan syndrome
·        Fetal alcohol syndrome
·        Turner syndrome 

Treatment and management methods of micrognathia include:

·        Using modified feeding methods and special equipments if the child is finding it difficult to eat

·        Performing corrective surgery on the child. This can be performed by an oral surgeon. It involves the addition or movement of the bones in the jaw so as to extend it
·        Using corrective devices such as braces to help fix misaligned teeth caused by this condition
·        Most importantly, treatment of the underlying health condition is strongly advised.


Thursday, 13 June 2013

CROUZON SYNDROME


crouzon, syndrome, big eyes, exophthalmos,

This syndrome was named after Octave Crouzon, a French physician who first described the disorder. He observed that the affected patients were a mother and a daughter, thus indicating that the disease originates from the genes.

This disorder was first called Craniofacial dysostosis (“Craniofacial” refers to the skull and face and "dysostosis" refers to the malformation of the bone)
This syndrome is caused by a mutation in the fibroblast growth factor receptor II, located in chromosome 10.

Basically, what happens in the disease is that an infant’s skull and facial bones, during development, fuse together early or are unable to expand. As a result, normal bone growth cannot occur

Crouzon syndrome is autosomal dominant meaning that children of a patient have a 50% chance of being affected.



 The symptoms are usually very pronounced especially in the face. Some of the symptoms are:

·       -  Low set ears. The ears on a foetus are much lower than those on an adult. During normal development, the ears “travel” upward on the head. However in Crouzon’s syndrome patients, this pattern of development is disrupted.

·        - Ear canal malformations are extremely common, resulting in some hearing loss

·        - Exophthalmos: bulging eyes due to shallow sockets

·        - Hypertelorism: Abnormally large distance between the eyes
-     
     - As a result of their face not developing well, children with Crouzon syndrome often have Obstructive Sleep Apnea, OSA (intervals of breathlessness during sleep)
-
·        - Psittichorhina: beak like nose

·       -  Noticeable shorter humerus (bone of the hand) and femur (bone of the leg) bones relative to the rest of their bodies.

Diagnosis of Crouzon syndrome can be carried out at birth by examining the signs and symptoms shown by the baby. Radiographs, magnetic resonance Imaging (MRI) scans, genetic testing, Xrays and CT scans can be used to diagnose the disease.

Surgery is mostly the option of treatment. This aims at correcting the skull and mid-face abnormalities,and treating OSA