DOWN SYNDROME: Medical Evaluations

Last updated 4th December, 2013

Human Genetics

Click here for details

Typical case record:

ID
Pathalogies to look for
and Tests to be done

Trisomy 21
Name of child: ___________________; Age: _____ years _____ months; Sex: ___________
Serial number of issue (whether elder siblings present): _____
Any other sibling has Down Syndrome? ___________________
Any other child has any other genetic disorder, e.g. Autism? ________________

Age of Mother: ___ yr; Father: _____ yrs.; Whether consanguinous: Yes ___; No: ____

Presenting Clinical Features present or not:

  • Mental retardation
  • Single palmer crease (simian crease)
  • An almond shape to the eyes caused by an epicanthic fold of the eyelid
  • Up slanting palpebral fissures
facial changes in Downs

Prenatal Diagnosis

Using Ultrasound, Echo-Cardiogram or other procedures. Click here for original reference
  • Essential update: First-trimester blood test for fetal cell-free DNA detects trisomy 21.
  • Ultrasound showing Nuchal translucency
  • Ultrasound showing Deformity of nasal bone
  • Echo-Cardiogram showing Cardiac structures
  • Laparoscopy used to for Villus (fingerlike protrusions of placenta) sampling
  • Amniocentasis (Removing fluid from uterus) to collect and test for cells with genetic signatures.
Nuchal Translucency

WARNING:

For us lesser mortals, here is a small preview of what we all can do.

Down Syndrome is a genetic fait acomplii. We cannot yet ater genes successfully in Dowen Syndrome. So why think of treatment?
Diabetes and Hypertension are also genetic fait accomplii. Don't we treat them?

For incidence by Age of Pregnancy: Click here. Close that page when done..

Medical Check-up

Down's is a genetic disorder causing Mental Retardation, which cannot be cured.
So, where does a doctor fit in? To take care of the following:

Brain (Central Nervous System or CNS)

CNS Problems

  • Epileptic Seizures: in 5 - 10%
  • Need not be classical generalised fits.
  • Could be minor ones as seen in Cerebral Palsy.
  • Regular Therapists should keep watch and refer at once
  • Most prevalent in infancy, and again in 20s & 30s
  • May develop Alzheimer's Disease later
SPECT in Downs
Blue or blochy red areas showing acquired circulatory disturbance due to injuries

Population Incidence of Down's

General population: approx 6%
Adults with Down's syndrome: 25%.
Many individuals with Down syndrome have the changes in the brain associated with Alzheimer's, but do not necessarily develop the clinical disorder.
Can doctors help? Yes, to an extent. Here's how:-

CVS (Heart & Blood Vessels)

Cardiovascular Problems

Heart problems reported in 30 - 60%

Types of Heart Problems:

REFERENCE: www.emedicine.com/ped/topic615.htm Last accessed 2 December 2013
  • Endocardial cushion defect (43%)
  • Ventricular septal defect (32%)
  • Secundum atrial septal defect (10%)
  • Tetralogy of Fallot (6%)
  • Isolated patent ductus arteriosus (4%)
  • About 30% of patients have several cardiac defects
  • Most common: PDA (16%) & Pulmonic Stenosis (9%)
  • About 70% of all endocardial cushion defects associated with Down

Immune System

Heart defects in Downs Diagram showing the Developmental
Defects in Heart
Ref: Children's Mercy Hospital, Kansas City
Immune System is keeping us alive against all odds. Immune system disturbance is common. This leads to recurrent respiratory and systemic infections. There is a 12-fold increased risk of infectious diseases, especially pneumonia, because of impaired cellular immunity.

The relative risk of acute leukemia in the first 5 years of life is 56 times that of individuals without Down syndrome. Approx. 1 in 150 patients develops leukemia.
CAUTION: Neonatal leukemoid reactions (ie, pseudoleukemia) are common, and distinguishing this from true leukemia frequently poses a diagnostic challenge.
Most cases comprise Acute megakaryoblastic leukaemia, that manifests in the first three years of life. Properly managed, it has a good prognosis. Another form of leukaemia also seen in new-borns with Down syndrome, that disappears spontaneously during the first 2 to 3 months of life.

Musculo-Skeletal Systems

Spinal Deformities are common. They may manifest as:
Atlanto-Axial Instability (AAI) found in approximately 14% of Down's.
This causes increased mobility at level of 1st & 2nd vertebrae with compression of the spinal cord.
There is neck pain and loss of upper body strength, changes in bladder and bowel functioning, changes in gait and unusual posturing of the head & neck.
Majority of the 14% will be asymptomatic.
About 10% (= 1% of Down's) likely to experience muscular problems, esp. if involved in sporting activities.

Locomotor Systems

Dental Problems

  • Teeth usually come through late and in an unusual order
  • Some teeth can be missing and those that are present can be small and misshapen.
  • Because the mouth is small crowding can occur.
  • Problems with gingivitis and periodontal disease.
  • Yearly Dental Check-up & Management is highly recommended
Tooth deformities in Downs

Other Systems

Gastro-Intestinal System
(12%): Duodenal atresia or stenosis, Hirschsprung disease
(Less than1%): fistula, Meckel diverticulum, imperforate anus, umbilical hernia, etc.
(5-15%): Celiac Disease

Genitourinary tract:
Renal malformations, hypospadias, micropenis, and cryptorchidism may occur.

Eyes:
Congenital cataracts blindness if not treated early.
Blepharitis, Conjunctivitis medically manageable

ENT:
Obstructed airways leading to snoring, unusual sleeping problems and sinusitis medically manageable
Hearing Loss is a significant concern
For some the loss may not occur until their teens leading to misdiagnosed behavioural disturbances medically manageable.

Endocrine Problems
Thyroid problems significantly increased, affecting growth and cognitive functioning.
Thyroid Function blood tests and appropriate therapy can offer significant help

MANAGEMENT

Standard Recommendation: 1-5 yrs

REFERENCE: S N Van Cleve; J Ped. Health Care; 2005; 20(1): 47-54

Standard Recommendation: 5-12 yrs

REFERENCE: S N Van Cleve; J Ped. Health Care; 2005; 20(1): 47-54

MODERN HIGH FUNDA

For long, Downs was considered just a genetic disorder, where nothing could be done to improve CNS function. In desperation, some experimental avenues were investigated.

WARNING: EXPERIMENTAL AVENUES

MB12 Injection, preservative free, 25 mg/ml formulation as per specifications of Dr. Neubrander