DOWN SYNDROME: Medical Evaluations
Name of child: ___________________; Age: _____ years _____ months; Sex: ___________
|Last updated 4th December, 2013
Click here for details
Typical case record:
Pathalogies to look for
and Tests to be done
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
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.
- 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..
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)
- 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)
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
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.
- 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
Diagram showing the Developmental
Defects in Heart
Ref: Children's Mercy Hospital, Kansas City
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.
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.
- 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
- 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
(12%): Duodenal atresia or stenosis, Hirschsprung disease
(Less than1%): fistula, Meckel diverticulum, imperforate anus, umbilical hernia, etc.
(5-15%): Celiac Disease
Renal malformations, hypospadias, micropenis, and cryptorchidism may occur.
Congenital cataracts à blindness if not treated early.
Blepharitis, Conjunctivitis à medically manageable
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.
Thyroid problems significantly increased, affecting growth and cognitive functioning.
Thyroid Function blood tests and appropriate therapy can offer significant help
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
REFERENCE: S N Van Cleve; J Ped. Health Care; 2005; 20(1): 47-54
- Don't neglect the Doctor's responsibilities
- Pregnancy counseling (don't delay!!!!!)
- Watch for seizures, early signs of Alzheimer's or Thyroid abnormalities
- Rule out Cardiac disorders, especially congenital defects
- Guard against infections, leukemia due to immune abnormalities
- Look for spinal, dental, limb, Eye/ENT, GIT and GU developmental defects.
- Physical therapy: These children will walk at 24 months even without OT/PT
Early OT/PT can help avoid abnormal compensatory postures / gait / stance
Untreated, these can significantly impair adult QOL
- Speech and Language therapy. There is a high risk of developing speech and language problems
Hearing defects can be a factor
Can also arise from poor development of muscles of speech production, large tongue & small oral cavity.
Therapist should focus on exercising the muscles of speech production as well as focussing on memory and understanding.
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
- Methylene Tetra Hydro Folate Reductase is an enzyme that methylates Tetrahydrofolate, which converts ordinary B12 to Methylcobalamin, which converts Homocysteine to Methionine.
Methionine penetrates brain to donate the "Methyl" part for intra-neural signaling by DNA and RNA, while the remnant goes on to form Glutathione, the sole scavenging agent of brain cells.
MTHFR deficiency leads to abnormal brain function, decreased dopaminergic activity causing bizzare behavior as well as Glutathione deficiency which reduces body's Free radical Scavenging activity as well as detoxifying capacity of brain cells.
MTHFR deficiency is seen in Autism, & also in Down children.
Routine formulations of MB12 Supplementation given Orally:
- MB12 is absorbed by specific intestinal mechanism which uses intrinsic factor and an active enzyme dependent absorption process in which approximately 1% of the ingested dose is absorbed. Its Bl. Level is erratic.
- In ASD, only MB12 25 mg/ml given at specific body-weight regulated doses by S/c route in gluteal fat maintains the flat blood level necessary to achieve optimum CNS activity.
- Casn we do the same for Downs? Only time will tell. This research has not been completed.
SPECT FUSION Scan of Brain
- SPECT scans with 2-D rendering plus cross sections in high resolution is one of the best means of assessing Functional Component of Brain
- Properly interpreted (a rarely available facility, esp. in children's scans in Neurodevelopmental Disabilities), it can show which areas of brain are getting and using perfused nutrition / oxygen, thereby signifying a corresponding degree of activity, damage (penumbra) or severely damaged unmanageable areas
- In Children, mostly done in CP, later Autism Spectrum Disorder & now just beginning to be done in Down Syndrome
- Maximum perfusion defect in CP
- Moderate perfusion defect in ASD
- Some, patchy perfusion defects in Down also
HBOT in Downs
Experimental research is underway using HBOT in Downs, targetting the areas of acquired brain damage as shown in a SPECT Scan (Click here to see a scan).
It is much too early to predict long term benefit, though short term benefits are already available as per Net Search, and personal experiences of a few leading HBOT Specialists abroad.
(Click here for a detailed description)
Hyperbaric Oxygen Therapy is a process to provide Oxygen to a patient kept at higher than normal atmospheric pressure inside a pressure chamber.
The pressure increases the solubility of oxygen in blood plasma and tissue fluid (Henry's law) to enhance availability of oxygen to anoxic tissues all over the body including the brain.
So where do we go from there? It is a very difficult question.
Very early, ANECDOTAL data suggest that Down cases with acquired hypooxic damage in brain may show a variable degree of improverd neurodevelopment after six months of HBOT.
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