COMMON SYNDROMES IN DEVELOPMENTAL DISABILITIES

Running head: COMMON SYNDROMES IN DEVELOPMENTAL DISABILITIES
COMMON SYNDROMES IN DEVELOPMENTAL DISABILITIES
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1COMMON SYNDROMES IN DEVELOPMENTAL DISABILITIES
Congenital Hypothyroidism
Congenital Hypothyroidism is a type of developmental disorder characterized by the
abnormally low production of the thyroid hormone in newborn infants. It is caused due to
deficiency of iodine, an inborn error in the metabolism of thyroid or an anatomically defective
thyroid gland. Newborn infants who are female are twice as likely to be at risk of being affected
by congenital hypothyroidism (Hamdoun et al., 2016). Infants with this developmental disorder
may demonstrate the following physiological characteristics: thick and large tongue, puffed face,
hoarse voice, large areas of soft spots in the skull, constipation, hypotonia or inadequate muscle
tone, and a distended abdomen with protruding belly button, known as umbilical hernia
(Wassner & Brown, 2015). Infants may also demonstrate behavioral and mental characteristic
similar to cretinism such as mental retardation and muted emotions, such as little or crying.
Congenital hypothyroidism may also cause complications like jaundice, hypotonia, constipation,
defective bone development, stunting and soft skull. In addition to lifelong thyroid replacement
therapy, parents must consider speech and language therapy as educational needs with special
emphasis on reading, arithmetic, comprehension and writing (Schoenmakers et al., 2015).

2COMMON SYNDROMES IN DEVELOPMENTAL DISABILITIES
References
Hamdoun, E., Karachunski, P., Nathan, B., Fischer, M., Torkelson, J. L., Drilling, A., & Petryk,
A. (2016). Case Report: The Specter of Untreated Congenital Hypothyroidism in
Immigrant Families. Pediatrics, 137(5), e20153418.
Schoenmakers, N., Alatzoglou, K. S., Chatterjee, V. K., & Dattani, M. T. (2015). Recent
advances in central congenital hypothyroidism. Journal of Endocrinology, 227(3), R51-
R71.
Wassner, A. J., & Brown, R. S. (2015). Congenital hypothyroidism: recent advances. Current
Opinion in Endocrinology & Diabetes and Obesity, 22(5), 407-412.

3COMMON SYNDROMES IN DEVELOPMENTAL DISABILITIES
Congenital Rubella
Congenital rubella is caused when the rubella virus or rubivirus in an expecting mother is
transmitted to the developing fetus. This disorder is most likely to impact pregnant women or
woman fit for childbearing age who have not received the rubella vaccination, which can further
be transmitted to the infant in the first three months of pregnancy (Lambert et al., 2015). Visible
physiological characteristics include: visual problems like cloudy eyes, glaucoma, cataracts,
enlarged organs like spleen and liver, deafness, disabilities in intellectual development, low birth
weight and retardation in growth, congenital heart disease and lesions in the skills. Mental and
behavioral characteristics of rubella include: developmental delays and disabilities in learning
(Hviid et al., 2019). Related health complications for rubella include: retardation in growth,
diabetes, glaucoma, autism, schizophrenia and growth retardation. Educational considerations for
a child suffering from rubella must be alignment with autism educational interventions where
educational professionals must collaborate with parents and adopt a strengths based learning
approach (Zhang et al., 2018).

4COMMON SYNDROMES IN DEVELOPMENTAL DISABILITIES
References
Hviid, A., Hansen, J. V., Frisch, M., & Melbye, M. (2019). Measles, mumps, rubella vaccination
and autism: A nationwide cohort study. Annals of Internal Medicine, 170(8), 513-520.
Lambert, N., Strebel, P., Orenstein, W., Icenogle, J., & Poland, G. A. (2015). Rubella. The
Lancet, 385(9984), 2297-2307.
Zhang, T., Tian, F., Long, L., Liu, J., & Wu, X. (2018). Diagnosis of rubella virus using antigen-
conjugated au@ Pt nanorods as nanozyme probe. International journal of
nanomedicine, 13, 4795.

5COMMON SYNDROMES IN DEVELOPMENTAL DISABILITIES
Cystic Fibrosis
Cystic fibrosis is hereditary pulmonary disease associated with excessive production of
sticky and thick mucus which can cause clogging of organs such as pancreas and lungs. It is
mainly caused due to defects in the cystic fibrosis disease and can equally affect both female and
male children (Farrell et al., 2017). The physiological characteristics of this disease include
wheezing, persistent coughing with mucus, nasal polyps, and shortness of breath and sweat
production which is salty. While cystic fibrosis does not cause any form of behavioral and
mental health disabilities, excessive mucus production results in a number of health
complications (Elborn, 2016). These include diarrhea, infertility, sinusitis, respiratory failure,
diabetes, malnutrition, pancreatitis, biliary cirrhosis and malnutrition. While children may not
need learning or educational interventions, there is a need to consider physiological interventions
like antibiotic administration, exercise, regular chest assessment and teaching the child to use
anti-inflammatories and bronchodilators (Stoltz, Meyerholz & Welsh, 2015).

6COMMON SYNDROMES IN DEVELOPMENTAL DISABILITIES
References
Elborn, J. S. (2016). Cystic fibrosis. The lancet, 388(10059), 2519-2531.
Farrell, P. M., White, T. B., Ren, C. L., Hempstead, S. E., Accurso, F., Derichs, N., ... & Sermet-
Gaudelus, I. (2017). Diagnosis of cystic fibrosis: consensus guidelines from the Cystic
Fibrosis Foundation. The Journal of pediatrics, 181, S4-S15.
Stoltz, D. A., Meyerholz, D. K., & Welsh, M. J. (2015). Origins of cystic fibrosis lung
disease. New England Journal of Medicine, 372(4), 351-362.

7COMMON SYNDROMES IN DEVELOPMENTAL DISABILITIES
Phenylketonuria
Phenylketonuria is an autosomal recessive disorder and inborn error of metabolism
caused due to inadequate metabolism of phenylalanine to tyrosine due to genetic defects in
phenylalanine hydroxylase. The disease affects both females and males, with 1 out of 12, 000
infants susceptible to disease acquisition (Blau, 2016). Physiological characteristics of the
disease are low birth weight, abnormally small sized head, dry skin, musty odor in breathe and
urine and light hair or skin complexion. Mental and behavioral characteristics associated with
this disease include mental retardation, developmental delays, restlessness, irritability and
hyperactivity (van Spronsen et al., 2017). Associated health complications include seizures,
eczema and mental retardation. Along with considering speech and language therapy, children’s
nutritional intake must also be considered which include avoidance of dairy and meats (Van
Wegberg et al., 2017).

8COMMON SYNDROMES IN DEVELOPMENTAL DISABILITIES
References
Blau, N. (2016). Genetics of phenylketonuria: then and now. Human mutation, 37(6), 508-515.
van Spronsen, F. J., van Wegberg, A. M., Ahring, K., Bélanger-Quintana, A., Blau, N., Bosch,
A. M., ... & Huijbregts, S. C. (2017). Key European guidelines for the diagnosis and
management of patients with phenylketonuria. The lancet Diabetes &
endocrinology, 5(9), 743-756.
Van Wegberg, A. M. J., MacDonald, A., Ahring, K., Bélanger-Quintana, A., Blau, N., Bosch, A.
M., ... & Huijbregts, S. C. (2017). The complete European guidelines on phenylketonuria:
diagnosis and treatment. Orphanet journal of rare diseases, 12(1), 162.

9COMMON SYNDROMES IN DEVELOPMENTAL DISABILITIES
Tourette’s
Tourette syndrome is associated with demonstration of uncontrollable repetitive sounds
and movement. Exact causes are not known and it is likely that the disorder is caused due to
environmental and genetic factors. Further, it is likely that males are thrice as likely as females to
be acquiring this disease. The physiological signs and symptoms of this disease can be divided
into simple tics and complex tics (Huisman-van Dijk et al., 2016). Simple tics include head
jerking, repetitive blinking of the eyes, twitching of the face, limbs or nose, darting of the eyes
and uncontrollable repetitive shoulder shrugging. Complex tics include repetition of imitated
movements, hopping, smelling or touching unusual objects, making obscene gesture, twisting
and bending. Such symptoms are aggravated during anxiety or stress and individuals may feel a
premonitory urge to perform the tic in order to feel mentally relieved (Hallett, 2015). If not
controlled, Tourette syndrome can result in complications like attention deficit hyperactivity
disorder, obsessive compulsive disorder, and conduct disorder. Educational interventions may
include teaching classmates on the child’s condition, providing a calm environment and simple
learning instructional material and provision of a separate sitting area for the child (Schrock et
al., 2015).

10COMMON SYNDROMES IN DEVELOPMENTAL DISABILITIES
References
Hallett, M. (2015). Tourette syndrome: update. Brain and Development, 37(7), 651-655.
Huisman-van Dijk, H. M., Van de Schoot, R., Rijkeboer, M. M., Mathews, C. A., & Cath, D. C.
(2016). The relationship between tics, OC, ADHD and autism symptoms: A cross-
disorder symptom analysis in Gilles de la Tourette syndrome patients and family-
members. Psychiatry research, 237, 138-146.
Schrock, L. E., Mink, J. W., Woods, D. W., Porta, M., Servello, D., Visser‐Vandewalle, V., ... &
Savica, R. (2015). Tourette syndrome deep brain stimulation: a review and updated
recommendations. Movement disorders, 30(4), 448-471.

11COMMON SYNDROMES IN DEVELOPMENTAL DISABILITIES