Down’s syndrome and homoeopathy

Dr Al Saba R

 INTRODUCTION: Trisomy 21 Down syndrome (Trisomy 21) is a chromosomal abnormality that occurs in approximately one in every 800–1000 livebirths. It was first described in 1866 by John Langdon Down, the Superintendent of a facility for children with Mental retardation in England. Jean Lejeune and his colleagues identified the genetic cause of Down syndrome in 1959. Down’s syndrome is the commonest chromosomal disorder causing mild to moderate intellectual disability, yet it is one of the neglected disorders amongst practising physicians.

EPIDEMIOLOGY:  The incidence of Down syndrome increases with maternal age and it occurrence varies in different population (1 in 319 to 1 in every 800-1000 live births).¹

MECHANISM:

Trisomy 21 can occur in one of the three forms:

Meiotic nondisjunction: Meiotic nondisjunction is an error occurring during separation of the pair of chromosomes during meiotic cell division in the process of formation of gametes (sperm or egg). If it occurs for chromosome 21 then, the gamete will get 2 copies of chromosome 21 leading to trisomy 21 in the zygote.
A patient with Down syndrome has 47 chromosomes in every cell (as compared with the normal 46). This is the most common cause of Down syndrome and it accounts for about 95% of cases.

Translocation Down syndrome: About 3% of patients with Down syndrome have the extra copy of chromosome 21 attached (translocated) to another chromosome. The other chromosome may be one of the acrocentric chromosomes, i.e., chromosome 13, 14, 15, 21 or 22. All cells have 46 chromosomes plus extra chromosome 21 material attached to another chromosome. About 50% of translocations occur spontaneously. The other half happens as a result of inheritance of translocated chromosome from a parent with a balanced translocation (the parent has 45 chromosomes, one free normal chromosome 21 and the other chromosome 21 attached to some other chromosome). Figure 2B shows a parent who is carrier of t (14; 21), and can give birth to a child with translocation Down syndrome

Mosaicism: Approximately 2% of children with Down syndrome have mosaicism wherein the patient has both normal diploid cells as well as cells with trisomy 21.²

CLINICAL FEATURES:

• Down syndrome is characterized by mental sub-normality (intellectual disability), typical facial dysmorphism and malformations of different organs.
• All the characteristic facial features are not obvious in neonatal period and diagnosis may be difficult.
• Clinical signs in a neonate which point towards Down syndrome include small ears, wide space in between the first and second toe (sandal gap), small internipple distance, brush-field spots, increased nuchal skinfold, brachycephaly, hypotonia, flat face, upward slant of palpebral fissures and transverse line in the palm of the hand (simian crease).
• As the child grows older, the facial features become more and more discernible. Apart from facial features, the child with Down syndrome is at risk of multiple clinical problems.²

DIAGNOSIS:
Diagnosis of Down syndrome is obvious in most cases from the facial features (Fig. 3A). However, this needs to be confirmed in every patient by doing chromosomal analysis. Karyotype also helps to detect Down syndrome due to translocation and mosaicism which helps in providing accurate risk of recurrence.

Prenatal screening for Down Syndrome ²

Screening strategy	Criteria/ Parameter	Sensitivity
Maternal age only	> 35 years	30%
Triple marker assay from maternal serum (15-22 weeks)	Free beta-hCG, alpha-fetoprotein,unconjugated estriol	60-75%
Quadruple marker from maternal serum (15-22 weeks)	Lnhibin, Free beta-hCG, Alpha-fetoprotein, Unconjugated estriol	80%
Double marker from maternal serum (11-14 weeks)	PAPP-A ,Free beta-hCG	65%
Fetal ultrasonography (11-14 weeks)	Nuchal translucency	65-75%
Combined test (double marker and USG)	PAPP-A, Free beta-hCG, Nuchal translucency	85-90%
Combined test and nasal bone	Nasal bone assessment, PAPP-A, free beta-hCG and nuchal translucency	95%

COMPLICATIONS:

• Congenital Heart defects (CHD): Atrioventricular defect and Ventricular septal defect are the most common forms of CHD (54% ASD and 33% VSD)
• Vision disorders: Ocular defects including Epicanthal folds, narrowed or slanted palpebral fissures (the mongoloid slant) and Brushfield spots (38-85%). Vision disorders include Strabismus (20-47%), nystagmus (11-29%), congenital cataract (4-7%), acquired cataract (3-15%), blepharitis (7-41%), refractive errors (43-70%), glaucoma (0.7%)
• Hearing disorders: High incidence of Chronic middle ear infections and chronic rhinorrhoea
• Skin problems: Alopecia areata (3-20%), vitiligo (1-9%), Seborrheic eczema, folliculitis, Syringoma.
• Congenital defects of Gastrointestinal tract: Celiac disease, Duodenal stenosis/atresia, Esophageal atresia/trachea-esophageal fistula, pyloric stenosis, Hirschprung disease, anal stenosis/atresia
• Obstructive sleep Apnea: High incidence due to macroglossia, Glossoptosis, recurrent enlargement of adenoid tonsils and enlarged lingual tonsils
• Wheezing airway disease : Major cause of morbidity and hospital admisions
• Thyroid disorders: Congenital hypothyroidism, primary hypothyroidism, Hashimoto thyroiditis, compensated Thyroidism, hyperthyroidism (Grave’s disease).
• Transient Myloproliferative disorder: Increased risk for Acute myeloid/lymphoblastic Leukemia, thrombocytopenia, Polycythemia.
• Orthopedic problems: atlantoaxial instability, acquired hip dislocation, patellofemoral instability, slipped capital femoral epiphysis.
• Behavioural problems: Mental development shows a declaration between ages of 6months and 2years, IQ values vary between 35-70, Attention deficit hyperactivity disorder, Conduct/oppositional disorder, aggressive behaviour, obsessive – compulsive disorder, Autism, Alzheimer disease after childhood.²

MANAGEMENT:

Down syndrome management is done through a multidisciplinary approach.
The risk of having a baby with Down syndrome increases with maternal age. A lady at an age of 45 carries a risk of up to 1 in 15 of having a child with Down syndrome. This phenomenon has been used as a screening method for selecting patients for prenatal diagnosis.

However, various screening protocols have evolved over last decade consisting of maternal serum markers and ultrasonographic markers with marked increase in the sensitivity and specificity. A brief list is presented in Table above.

All the screening protocols give a risk figure which is then compared with the risk of abortion following an amniocentesis. A risk of 1:250 or more is taken as significant and the couple is advised prenatal diagnosis.

Prenatal diagnosis can be done by karyotyping the fetal cells obtained by chorionic villus sampling or amniocentesis. The couple can opt for termination of pregnancy in case the foetus is having Down syndrome or any other chromosomal abnormality.²

Genetic Counselling:
Genetic counselling includes providing the family with confirmed diagnosis and information regarding prognosis in child with Down syndrome. It should be done as soon as the diagnosis is suspected or confirmed after birth. It is very important to convey to the parents regarding the clinical problems in Down syndrome as well as information about absence of any definitive treatment.Treatment of clinical problems detected and screening protocol for future needs to be discussed. Further the couple is explained about the risk of Down syndrome in subsequent pregnancy and the option of prenatal diagnosis.²

ROLE OF HOMOEOPATHY IN DOWN’S SYNDROME:

Homeopathy heals holistically!

• Identify the Cause: In the homeopathic system of medicine, the prime importance is given to the underlying cause of the disease, symptoms and signs. Through a holistic approach, the aim is to find out the deviations from health. As in case of Down syndrome, because of presence of extra gene, the characteristic physical and mental symptoms appear. Now, this genetic make-up can’t be altered but the expressions can! The identification of dynamic cause can be of great help. Homoeopathically in such cases, the prenatal and family history is very important. There are many medicines in homeopathy which are prescribed according to the pre-natal, natal, past and family history. Therefore, homeopath asks in-depth questions which provide the best information.
• Constitutional – Individualized Medicine: The term constitutional and individualized medicines are commonly used in homeopathy. The aim of constitutional treatment is to find out the best possible individualized remedy for a case. The aim of such treatment is to improve the immune system as a whole so that a person with Down syndrome doesn’t catch the infection, allergies and other diseases easily and also the recurrent tendency to a particular disease can also be reduced.
• Acute – Chronic Diseases: In Down syndrome, there may be acute diseases, acute exacerbation of chronic disease and recurrent presentation of chronic diseases. Therefore, if we study the in-depth of a case we know the difference between an acute condition and acute presentation of a chronic disease.
• Treat – Manage – Palliate: This concept is very easy to understand. With a thorough knowledge of disease and homeopathy we categorize patients according to treatable, manageable and cases where palliation is the only option categories. For example, recurrent tendency to catch a cough and cold is treatable, delayed milestones can be treated to some extent, coeliac disease can only be managed and cretinism needs only replacement therapy (palliation).
• First – Aid Kit: Like wise the educative material, individuals, parents and guardians can keep a homeopathic first aid kit at their home to treat the minor symptoms and ailments homoeopathically. The homeopathic medicines are safe, effective, affordable and easier to administer. Therefore, these kits can be used in consultation with the physician at odd hours also.
• Improvement is the Keyword: Homeopathic medicines aims to improve the immunity and nervous system, therefore, these help in improving the cognitive and intellectual abilities of an individual suffering from Down syndrome.
• As Add-on: Many times it is commonly mistaken that homeopathic medicines cannot be opted along with other medicines or therapies. It is now well understood that homeopathic medicines can be safely taken along with other medicines or therapies. The patient is asked to maintain a gap of approx. 30 mins between different medications.³

Following medicines are commonly used in Homeopathy as constitutional or specific or both in Down syndrome individuals:³

• Baryta carb
• Calcarea carb
• Calcarea phos
• Causticum
• Carcinosin
• Phosphorus
• Silicea
• Syphilinum
• Thuja occidentalis
• Tuberculinum

Homoeopathy provides the children of Down’s syndrome to address mental retardation, lowered immunity, delayed milestones and gastric complaints

Homoeopathy, in combination with appropriate educational support, helps children with Down’s syndrome achieve their maximum potential, fostering their independence and over all well being.

Rubrics 
Children – DOWN’s, syndrome: (6) BAR-C. Bar-m. calc. Carc. pitu-gl. thyr. – Murphy
GENERALS – DOWN’s syndrome: (10) bar-c. bufo carc. des-ac. med. morg-p. nard-jt. pert. syc. toxo-g.- Synthesis

REFERENCES:

1).  Agarwal Gupta N, Kabra M. Diagnosis and management of Down Syndrome. The Indian Journal of Pediatrics. 2013;81(6):5607.doi:10.1007/s1209801312497  https://pubmed.ncbi.nlm.nih.gov/24127006/
2). Gupta P, Menon P, Ramji S, Lodha R. PG Textbook of Pediatrics. 3rd ed. Delhi: Jaypee Brothers, Medical Publishers Pvt. Ltd.; 2022.
3). https://vividhomeopathy.com/down-syndrome-and-role-of-homeopathy/

Dr AL SABA R
MD Part 2 Paediatrics
Email ID : sabakarobari786@gmail.com
UGO: Dr Muddassir M Mulla
Government Homoeopathic Medical College and Hospital
Bengaluru – 560079