Pervasive Development Disorder
The term Pervasive Development Disorders (PDDs) is an umbrella term used to refer to a group of developmental disorders of the brain function. These cover the whole family of autistic spectrum including Asperger syndrome, Heeler's syndrome and Rett disorder. As PDD covers such a wide spectrum, it is exhibited differently from child to child. Children with these disorders are often confused in their thinking and they have problems understanding the world around them. Since these conditions are identified in children around 3 years of age, which is a critical period in the child's development, they are called development disorders. Even if the condition begins earlier than 3 years of age, parents often do not notice the problem until the child is a toddler who is not walking, talking or developing as well as other kids of the same age.
Diagnosis of Pervasive Development Disorder
Much of the diagnosis depends on the accurate developmental history and evaluation of the current functioning of the child. Complete medical history and physical exam is done for a complete evaluation by doctors. Although there are no laboratory diagnosis in PDD, various blood tests and X rays are done to determine if there is a physical disorder causing these symptoms. In the absence of any physical disorder, the child is referred to a specialist in childhood development disorders such as psychiatrist or psychologist, pediatric neurologist or other professionals trained to treat PDDs. Inputs from the parents of the affected child, his/her teachers, and other adults who are familiar to the child are sought. Parents require ongoing counseling and support and they must understand that they are not responsible for the child's condition.
Sensory Processing Disorder
Sensory processing Disorder or SPD is like a neurological 'traffic jam' that prevents certain parts of the brain from receiving information needed to interpret sensory information correctly. Since these persons find it difficult to process information received through the senses, it becomes a challenge to perform numerous tasks every day. Clumsy behavior, anxiety, depression, failure at school and other impacts may result if this disorder is not attended to effectively.
Since our senses are working together, we hear background sounds and feel our clothing, chair, floor or sky. We can see letters on the screen and can also filter out unimportant sensory input to make sense of what we are reading. But, for instance, if we feel that our shirt is itchy and is hurting us or keep sliding off the chair, or the words that you read pulsate, then we may have sensory processing dysfunction – these could be developmental delays, attention and learning problems, and autistic spectrum disorders.
What happens if a child's normal every day functioning is so severely affected by sensory preferences? The child is either hypersensitive (over-responsiveness) or hyposensitive (under-responsiveness) to sensory stimuli. He/she has trouble integrating sensory input – in other words, these children suffer from Sensory Processing Disorder, which is also called Sensory Integration Dysfunction.
If we examine the signs and symptoms of hypersensitivities to sensory input, the first thing that strikes is fear of sudden loud, or metallic noises like flushing toilets, clanking silverware or other noises that could be unoffensive to others. These children may be distracted by background noises that others do not hear and are fearful of surprise touch; they avoid hugs and cuddling even with those familiar to them. They are fearful of crowds and avoid standing in close proximity to others and do not enjoy a game of swing. They are extremely fearful of climbing or falling and have poor balance, and may fall often.
Hyposensitivities to sensory input include a constant need to touch people or textures. They exhibit clumsy and uncoordinated movements and have an extremely high tolerance for or indifference to pain. They do not understand their strength and are often fidgety and unable to sit in one place whereas they enjoy movement-based play like jumping, spinning etc. They could be thrill seekers and can be dangerous at times. Whether the child is eating a hamburger or riding a cycle or reading a book, his/her successful completion of that activity will depend upon 'Sensory integration'. Out of proportion reactions to touch, sound, sight, movement, taste or smell could be:
A study by Briggs-Gowen Group in 2009 suggested that at least 1 in every 6 children experience this sensory symptom that may be significant enough to affect aspects of everyday life functions. Indeed, it could get so chronic that it can disrupt the everyday life of a child.
What could be the causes of SPD ?
The causes of SPD are both genetic and environmental. Preliminary research studies suggest that SPD is often inherited. Prenatal and birth complications have been implicated and even environmental factors are involved to cause SPD. But only with further research, it will be possible to identify the role of each.
Emotional impacts of SPD
Since the child has problems with motor skills and other abilities, success at school and childhood accomplishments could be challenging. As a result, the child often gets socially isolated and will suffer from low esteem complex. Inability to make friends or be part of a group, poor self-concept, academic failure, uncooperative, disruptive and being labeled as clumsy or 'out of control'. Parents of such children are often blamed by those who are unaware of the child's hidden handicap.
Treatment for SPD
Although effective treatment for SPD is available, far too many children are misdiagnosed with this disorder and hence not properly treated. Untreated SPD can affect the individual's ability to succeed in marriage and social environments.
Once accurately diagnosed, such children can immensely benefit from a program of occupational therapy or physical therapy with a sensory integration approach, under a well-trained clinician, with listening therapies, and other complimentary and combined effective therapies.
Such therapies takes place in a sensory-rich environment called the OT gym. The child is guided through fun activities that are subtly structured so that he/she though constantly challenged is always successful. The child is able to behave in a more functional manner. Such effective occupational therapy enables children with SPD to take part in normal childhood activities such as playing with friends, enjoying school, dressing and sleeping. Parents are involved and work with the therapists to learn more about their child's sensory challenges and methods for engaging therapeutic activities called 'sensory diet', at home or elsewhere. This way, the parents could become better advocates for their ward at school and within the community at large.
An unusually cheerful demeanor and ease with strangers and charming facial appearance along with a low nasal bridge are characteristics of Williams Syndrome or Williams-Beuren syndrome. On the other hand, developmental delay, language deficiency, visual and spatial impairments, cardiovascular problems and high blood calcium are also features of Williams Syndrome in the very same person.
To put it in other words, this is a developmental disorder that affects many parts of the body, characterized by mild to moderate intellectual disability, some exceptional personality features such as distinctive facial features, heart and blood vessel problems. Identified by JCP Williams, a New Zealander in 1961, this syndrome is named after him. Williams Syndrome has many names such as Beuren syndrome, Elfin Facies Syndrome with Hypercalcemia, Supravalvar Aortic Stenosis Syndrome and Williams Beuren syndrome. It is usually diagnosed before age 4.
Williams Syndrome is caused when about 26 genes from the chromosome 7 are spontaneously micro-deleted. Occurrence of this disease is 1: 7500 to 1: 20000 births. As several genes are lost in this deletion, researchers opine that the loss can contribute to the characteristic features of this disorder. Some of the genes typically deleted in this syndrome are CLIP2, ELN, GTF2I, GTF2IRD1, and LIMK1.
Most do not inherit this syndrome. The deletions of chromosomes are only due to random events that occur in eggs or sperm from their parents. Loss of ELN gene which codes for protein elastin can cause full cheeks, coarse voice, hernias and bladder diverticulitis. Deletion of other genes causes characteristics such as visual-spatial deficiency. Deficiency of other genes such as CLIP2, can contribute to learning disabilities and other cognitive difficulties associated with this syndrome.
Perhaps the most common symptom of this syndrome is heart defects followed by unusual facial features. These include Elfin-like facial features, including upturned nose and prominent lips, an abnormally small head, vertical skin folds that cover the inner corners of the eyes and sunken chest.
Trouble to gain weight as a baby, low muscle tone and a height lower than expected, are other signs. Those with this syndrome tend to have gaps in teeth, a flattened nasal bridge and an unusually longer philtrum (the vertical groove between the base of the nose and the border of the upper lip). Those affected have teeth that are small, crooked or missing.
These are 'cocktail party' type personalities, highly talkative and overly sociable. They develop hyper focus that is deep and intense concentration of the eyes while socially engaged, which could be very embarrassing.
Attention deficit disorder, developmental delays and far sightedness are characteristic of these syndrome personalities. While those with Williams syndrome tend to be more sociable than autistic persons, they have impairment in cognitive function with visuo-spatial impairments.
Recognition of physical symptoms by a pediatrician followed by confirmatory genetic test is the basis of diagnosis for this syndrome. A pediatrician looks at some significant external physical signs characteristic of this syndrome including puffiness around the eyes, long philtrum and stellate pattern (arranged in a radiating pattern like that of a star) in the iris. Some less reliable symptoms of this disorder are anteverted nostrils, a wide mouth and elongated neck.
Physiological symptoms include cardiovascular problems, feeding disturbance in infants. Developmental delay is also an initial sign of this disorder. Pediatrician may also look at ultrasound to check the child's heart for irregularities. Two possible genetic tests to diagnose this order are micro-assay analysis and fluorescent in situ hybridization (FISH) test. These two genetic tests are more or less confirmatory in identifying Williams Syndrome than previous methods which simply relied on cardiovascular problems and facial features.
As such, this syndrome has no cure. Recommendations include avoidance of extra calcium and vitamin D and treating high levels of blood calcium. While narrowing of blood vessels can be a significant health problem, this can be treated on an individual basis. Those with joint stiffness and low muscle tone can be given physical therapy. Developmental and speech therapies are normally given to children to increase their social interactions.
Annual cardiological evaluation is recommended for those with Williams Syndrome. Ophthalmic evaluations and examination for hernia, hearing assessments, blood pressure measurement, developmental and growth evaluation, ortho assessment of joints, muscle tone and assessments of diet and feeding to manage constipation and urinary problems are suggested.
Management of Williams Syndrome
This is a syndrome that cannot be cured but can be managed. Early medical evaluation and treatment can go a long way in managing certain developmental delays and heart problems. It is important for family members to remember that this is a rare condition and that the affected individual cannot be expected to live a normal life due to complications arising out of the disease.
Music is viewed by some as one of the most effective treatment for this syndrome. Music helps in healing the internal and external anxiety of those afflicted.
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Diseases, Symptoms, Tests and Treatment arranged in alphabetical order:
Bibliography / Reference
Collection of Pages - Last revised Date: December 7, 2022