DOWN SYNDROME: Medical Evaluations

Last updated 4^th December, 2013

Human Genetics

Typical case record:

ID
Pathalogies to look for
and Tests to be done

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

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.

WARNING:

Most abnormal fetuses abort
Prenatal diagnosis may be 90%+ correct, but not 100 %
Instances are on record that (+) Diagnosis was made, parents decided not to abort and went on to have a normal child.
But those who know how to do a complete Diagnosis also know what steps to take

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

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:-

Vitamin E (natural d-tocopherol is better) delays the time to clinical worsening.
Omega-3 fatty acids, especially DHA has been found quite useful in early cases in preventing brain degeneration.
Testosterone may help by protecting neurons against premature cell death.
A coctail of folate, vitamin B6, alpha-tocopherol, S-adenosyl methionine, N-acetyl cysteine, and acetyl-L-carnitine, in a 12-month, open-label trial with 14 community-dwelling individuals with early-stage showed promise
Status of HBOT and Regenerative Therrapy is only partially established at this point
Namenda may act by regulating glutamate in improving learning and memory.
Aricept. a cholinesterase inhibitor, may improve memory and daily living.
Exelon & Razadyne inhibit breakdown of acetylcholine
Cognex inhibits cholinesterase and slows breakdown of acetylcholine.
Exelon, Razadyne, and Cognex seem to help only in with mild or moderate cases.

CVS (Heart & Blood Vessels)

Cardiovascular Problems

Heart problems reported in 30 - 60%

Abnormal heart rhythm, fainting episodes, palpitations, or chest pain secondary to heart lesion
May sometimes be correctable by surgery. Recommended time is within 1st 6 six months.
Congenital Heart Disease can occur in 40-50%; often seen in hospitalized cases (62%)
Common cause of death in first 2 years of life

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

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

Short arms and legs
More difficult to learn sitting because they cannot lean forward and use their arms to prop them up
When falling, they fall further before being able to catch themselves
Climbing more difficult due to short legs
Usually learn to walk at 24 months rather than at the average 12 months.
Decreased muscle strength
Hypotonia, esp. hips, making it harder for child to balance.This diminishes over time but will persist throughout life

These may lead to many patches of undetected cerebral trauma (Click here to see a typical Brain SPECT Scan showing multiple patches of deep red or blue that are the acquired brain damages. These further compromises their mental and physical functions and abilities unless treated early (See below)

Child locking their knee when standing.
Compensatory but abnormal postures and stance. Hence need for DAILY Expert Occupational Therapy

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

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 à blindness if not treated early.
Blepharitis, Conjunctivitis à medically manageable

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

Assess problems with eating: swallowing / allergy
Manage constipation: dietary fibres / polyethymene glycol
Sleep Disturbance: correct sleep apnea / URT obstruction
ENT: Look for serous Otitis media à hearing loss
Neuro-Developmental Progress: Regular assessment and planned target oriented Standard Therapy (OT + PT + Special Education + Sensory Integration + Speech Therapy)
Social / Behavior Adjustment: Counseling of child / family to help integrate him into family & society
Yearly Follow Up: TSH, Hearing, Eye, Dental, Ortho

Standard Recommendation: 5-12 yrs