Video of SVAS Corrective Surgery

This is rather graphic and not recommended for the queasy.

A preliminary study of orbitofrontal activation and hypersociability in Williams Syndrome

SpringerLink - Journal Article

"Individuals with Williams syndrome (WS) demonstrate an abnormally positive social bias. However, the neural substrates of this hypersociability, i.e., positive attribution bias and increased drive toward social interaction, have not fully been elucidated. Methods: We performed an event-related functional magnetic resonance imaging study while individuals with WS and typically developing controls (TD) matched positive and negative emotional faces. WS compared to TD showed reduced right amygdala activation during presentation of negative faces, as in the previous literature. In addition, WS showed a unique pattern of right orbitofrontal cortex activation. While TD showed medial orbitofrontal cortex activation in response to positive, and lateral orbitofrontal cortex activation to negative, WS showed the opposite pattern. In light of the general notion of a medial/lateral gradient of reward/punishment processing in the orbitofrontal cortex, these findings provide an additional biological explanation for, or correlate of positive attribution bias and hypersociability in WS."

Some Observations on IQ Measurements in Williams Syndrome Patients

Intelligent Insights on Intelligence Theories and Tests (aka IQ's Corner): Intellectual heterogeneity of MR/ID as evidence against AAIDD "stuck on g" green manual: Even in cleary genetic-based syndromes (Williams Syndrome):

"I would argue, as have others, that this WS syndrome-specific cognitive stereotype is largely due to the fact that historically MR/ID researchers only had the V/P organized Wechsler batteries as their primary IQ battery...and that the 'profile' may be due to this research being constrained by batteries that did not validly measure a greater breadth of cognitive functioning. This is not a criticism of the past research, as researchers had limited theories of intelligence and measures of constructs from which to work. However, now that CHC theory has emerged as the consensus psychometric model of cognitive abilities and, more importantly, there are a significant number of well-standardized and psychometrically sound IQ batteries of multiple cognitive abilities, I'm not surprised that a syndrome with a strong genetic core, which typically results in more within-group similarity, when measured by more contemporary CHC-based IQ batteries display considerable variability/heterogeneity in patterns of cognitive abilities.

Below is the abstract for 2005 study that reported that WS individuals do NOT display the classic and historical syndrome-specific pattern of cognitive strengths and weaknesses when measured with a more contemporary CHC-based cognitive battery (WJ-R: conflict of interest note--I am a coauthor of the next edition..the WJ III).

This study clearly suggests that even a population of individuals with a shared genetic causal mechanism display significant individual differences in patterns of cognitive abilities. If this is found in ID/MR populations with a strong shared genetic causal mechanism, one would be hard-pressed to argue that such variability does not exist for more milder forms of ID/MR and the general population.

My point (again)---I'm very concerned that the AAIDD 11th Edition ID manual's 'stuck on g' position is out of synch with contemporary intelligence theory and measurement and has the potential to cause serious harm when potentially life-altering decisions are made on the basis of a single g-based composite IQ scores that ignores the heterogeneity of human cognitive abilities across the ability spectrum and different disorders.

Porter, M. A. & Coltheart, M. Cognitive Heterogeneity in Williams Syndrome. Developmental Neuropsychology, 27 (2), 275-306."

Navigation ability may be linked to genes according to study with Williams Syndrome subjects

Navigation ability may be linked to genes | Machines Like Us: "In the study, Landau's team challenged people with Williams syndrome to watch while someone hid an object beneath a small cloth flap in one corner of a small rectangular room with four solid black walls that had no landmarks. Subjects were then blindfolded and spun around (think 'Pin the Tail on the Donkey') for about 10 seconds to disorient them. Once the blindfold was taken off, the subjects were asked to find the hidden object.

According to Landau, the people with Williams syndrome searched the four corners randomly; indicating that their ability to mentally visualize the layout of the room and quickly find which corner held the hidden object is severely impaired.

'They searched the room for the hidden object randomly, as if they had never before seen the overall geometry of the room or the lengths of the walls and their geometric – left and right – relation to each other,' Landau explained. 'If they could imagine the overall shape of the room's layout – that there are four walls, two of them long and two of them short and that the toy was hidden in a corner that has a short wall on the right and the long wall on the left – then they should have guessed that one of the two 'geometrically equivalent corners' was the right place. This is what typically developing humans do, as early as 18 months of age.'

Control subjects (healthy college-aged students) responded more typically, searching for the object in one of the two geometrically equivalent corners, as has been found in studies by many other investigators.

According to Landau, the results of this study provides another clue to the link between how genes work, how brains develop and become specialized and what can go wrong to result in very basic cognitive system malfunctioning.

'Although we are quite far from understanding the links between the specific genes that are missing in Williams syndrome and the behavior they show, such as failure to reorient, it is clear that the missing genes ultimately have some effect on the brain,' she said. 'Our evidence is the first to directly show a sub

stantial deficit in this reorientation system that is caused by missing genes in humans.'"

Attentional characteristics of infants and toddlers with Williams syndrome...

Attentional characteristics of infants and toddlers with Williams syndrome … - LooKPDF.com:

"Two studies were conducted to consider the looking behavior of infants and toddlers with Williams syndrome (WS). In Study 1, the looking behavior of a 10-month-old girl with WS during play sessions with her mother and with a stranger was compared to that of 2 groups of infants who were developing normally (ND), 1 matched for chronological age and the other for developmental age. The infant with WS spent more than twice as much time looking at her mother as the infants in either contrast group did. She also spent twice as much time looking at the stranger. In addition, during 78% of this time, her gaze at the stranger was coded as extremely intense. Looks of this intensity were virtually never made by the ND infants."

New dental surgery center will cater to special needs patients | kens5.com | News

New dental surgery center will cater to special needs patients | kens5.com | News:

"Dr. Henry Chu has a heart for special need dental patients, people with mental or physical challenges who can’t sit still in a regular office setting. One of his patients, 31-year-old Meghann Hooper, has a condition called Williams Syndrome. It gives her extreme anxiety and a gag reflex that has kept her out of the dental chair for year. Chu put her under and gave her the care she needed.
“Dr. Chu gave me some fillings,” Hooper said. “He took a couple of teeth out…and that was it.”

Operating room space can be hard to find. That’s why Chu and his partners are building the Trinity Surgery Center at 2116 Babcock Road in San Antonio’s medical center. It will be a 65-hundred square foot, fully licensed surgery center specifically for special needs children and adults.

“Maybe they have epilepsy and they’re not able to sit still. Or they have Down’s Syndrome and they don’t even really understand why they’re having the work done,” Chu explained. “Our main goal is to do dental rehabilitation. And most of the patients coming to us, many of them have not been to the dentist in ten or 20 years.”

When dentists put these patients under and reverse years of damage, the results are dramatic. For the estimated 30,000 special needs individuals in San Antonio, the new facility will be a welcome addition.

“You know what? I think it’s a wonderful idea to have that because it’s a lot easier for me,” Hooper said. “I can be scared of it, but it’s a lot easier.”"

Summary Article on Williams Syndrome

NEJM -- Williams-Beuren Syndrome

The January 2010 issue of the New England Journal of Medicine has an excellent summary article on Williams Syndrome. A free 21 day trial membership can be started to download the entire article in pdf format.

"Williams–Beuren syndrome (also known as Williams' syndrome; Online Mendelian Inheritance in Man [OMIM] number, 194050), a multisystem disorder, is caused by deletion of the Williams–Beuren syndrome chromosome region, spanning 1.5 million to 1.8 million base pairs and containing 26 to 28 genes. Exactly how gene loss leads to the characteristic phenotype of Williams–Beuren syndrome is unknown, but hypoexpression of gene products is likely to be involved. Estimated to occur in approximately 1 in 10,000 persons,¹ Williams–Beuren syndrome is a microdeletion disorder, or contiguous-gene-deletion disorder, that can serve as a model for the study of genotype–phenotype correlations and potentially reveal . . ."

Comprehension of spatial language in Williams syndrome: Evidence for impaired spatial representation of verbal descriptions; Clinical Linguistics & Phonetics - 21(9):Pages 689-704 - Informa Healthcare

Comprehension of spatial language in Williams syndrome: Evidence for impaired spatial representation of verbal descriptions; Clinical Linguistics & Phonetics - 21(9):Pages 689-704 - Informa Healthcare:

"Results demonstrated that individuals with Williams syndrome were selectively impaired on the second task relative to controls. The study therefore provides support for previous work demonstrating impaired comprehension of spatial language in this population. Furthermore, the results suggest that such impairments reflect a fundamental problem with processing spatial descriptions rather than merely a poor understanding of the semantics of spatial terms, which in turn has implications for the interaction between spatial abilities and language processing in general."

Comprehension of metaphor and metonymy in children with Williams syndrome

Comprehension of metaphor and metonymy in children with Williams syndrome:

"Metonyms may be part of vocabulary and treated as synonyms in Williams syndrome, while metaphor engages additional cognitive mechanisms outside language that develop atypically in this disorder. Despite earlier reports that emphasize good language skills, the Williams syndrome language system shows anomalies compared with typical development."

Sudden cardiac death under anesthesia in pediatric patient with williams syndrome: A case report and review of literature

Sudden cardiac death under anesthesia in pediatric patient with williams syndrome: A case report and review of literature Gupta P, Tobias JD, Goyal S, Miller MD, Melendez E, Noviski N, De Moor MM, Mehta V - Ann Card Anaesth:

There is quite a lot to digest in this particular article, but it is likely information that your pediatric cardiologist (unless specializing in WS) is unaware of.

"In conclusion, patients with WS present many peri-operative and peri-procedural challenges. A thorough pre-operative/pre-procedure screening is suggested to identify patients with anatomical abnormalities which may result in coronary artery involvement. Even with appropriate care, sudden cardiac arrest and death have been reported. Unfortunately, many of these patients are refractory to standard resuscitation protocols. Given these concerns, a thorough explanation of the risk-benefit ratio should be considered whenever diagnostic tests are considered, in patients with WS, along with a thorough discussion with parents regarding the potential risks involved."

Numerical abilities in Williams syndrome

Numerical abilities in Williams syndrome: Dissociating the analogue magnitude system and verbal retrieval - Journal of Clinical and Experimental Neuropsychology:

"Two numerical systems—the analogue magnitude system and verbal retrieval—were investigated in Williams syndrome (WS) with three numerical tasks: simple addition, simple multiplication, and number comparison. A new matching technique was introduced in selecting the proper control groups. The WS group was relatively fast in the addition and multiplication tasks, but was slow in number comparison. No reverse numerical effect was observed in the comparison task, and the distance effect was stronger than that in the control groups. The findings indicate a profile with an impaired analogue magnitude system and less impaired verbal retrieval in Williams syndrome."

Williams syndrome associated with complete atrioventricular septal defect

Williams syndrome associated with complete atrioventricular septal defect:

"To our knowledge, this is the first description in the literature of a long follow up period of Williams syndrome associated with complete atrioventricular septal defect. During 10 years’ follow up, the pressure gradient in the ascending aorta did not increase despite the narrowing of the ascending aorta seen on the aortogram."

European Journal of Human Genetics - An atypical 7q11.23 deletion in a normal IQ Williams-Beuren syndrome patient

European Journal of Human Genetics - An atypical 7q11.23 deletion in a normal IQ Williams-Beuren syndrome patient:

"Williams–Beuren syndrome (WBS; OMIM no. 194050) is a multisystemic neurodevelopmental disorder caused by a hemizygous deletion of 1.55 Mb on chromosome 7q11.23 spanning 28 genes. Haploinsufficiency of the ELN gene was shown to be responsible for supravalvular aortic stenosis and generalized arteriopathy, whereas LIMK1, CLIP2, GTF2IRD1 and GTF2I genes were suggested to be linked to the specific cognitive profile and craniofacial features. These insights for genotype–phenotype correlations came from the molecular and clinical analysis of patients with atypical deletions and mice models. Here we report a patient showing mild WBS physical phenotype and normal IQ, who carries a shorter 1 Mb atypical deletion. This rearrangement does not include the GTF2IRD1 and GTF2I genes and only partially the BAZ1B gene. Our results are consistent with the hypothesis that hemizygosity of the GTF2IRD1 and GTF2I genes might be involved in the facial dysmorphisms and in the specific motor and cognitive deficits observed in WBS patients."

Summary Statement: What is Williams Syndrome?

Toddler With Elfin Face, Cardiovascular Abnormalities, Hypercalcemia, and Developmental Delays

Here is one doctor's summary analysis of Williams Syndrome.

JAMES S. LEUNG, MD
Hospital for Sick Children, Toronto C. PION KAO, MD

Classically, Williams syndrome presents with transient infantile hypercalcemia that usually resolves by childhood, congenital cardiovascular defects, dysmorphic craniofacial features, a characteristic cognitive and personality profile, growth retardation, and developmental delays.1,2 This multisystem neurodevelopmental disorder was first described by Williams in 1961 and shortly afterward by Beuren (in 1962).3,4 Hence, it is also known as Williams-Beuren syndrome.

INCIDENCE AND ETIOLOGY

The incidence is about 1 in 7500 live births.5 Boys and girls are equally affected.5

Williams syndrome is caused by a hemizygous microdeletion of the ELN gene and contiguous genes on chromosome 7 at band 7q11.23.6,7 This microdeletion results from an unequal meiotic crossover event in one of the parents.8 Deletions of the ELN gene, which encodes for the protein elastin, are found in virtually all patients with Williams syndrome and are directly implicated in the pathogenesis of cardiovascular disease in these patients.6,9,10 However, because ELN is not expressed in significant levels in the brain, ELN deletions are not thought to be responsible for the visuospatial cognition problems, mental retardation, and facial dysmorphology associated with Williams syndrome.11 Instead, these features have been attributed to the combined effects of LIM-K, CYLN2, GTF2IRD1, and GTF2I gene deletions.9,12

Although most cases appear sporadically from de novo mutations, occasional cases of autosomal dominant transmission—occurring when adults with Williams syndrome have children—have been reported.13

CLINICAL MANIFESTATIONS

About 75% of patients have congenital cardiovascular defects, notably supravalvular aortic stenosis (at least 65% of all patients), followed by peripheral pulmonary stenosis (24%) and ventricular septal defects (12%).1 Renal, coronary, mesenteric, cerebral, and carotid artery stenosis may also occur but usually develop in older children and adults.2,10 Renal disease, in particular, needs to be evaluated early because it can lead to renal failure.

The craniofacial phenotype is characterized by mild microcephaly, upturned nostrils, a flat nasal bridge, full lips, wide mouth, long philtrum, bitemporal depressions, periorbital fullness, stellate irides, micrognathia, epicanthal folds, microdontia, malocclusion, enamel hypoplasia, dental aplasia, and fan-shaped orientation of the front teeth (elfin face).1,2

Children with Williams syndrome consistently exhibit a personality profile characterized by highly sociable and overly friendly behaviors accompanied by seemingly paradoxical anxieties, phobias, and poor daily living skills (“cocktail party” personality).14-17 These children have a happy affect—they cheer you up if you are having a bad day in clinic—and remarkable musical ability, which is one of their paradoxical strengths and gives parents hope. Affected children often have mild to moderate mental retardation, extremely severe visuospatial construction problems, and delayed vocabulary acquisition but have normal grammatical, facial recognition, and auditory rote memory skills.14,17 These children tend to be hyperactive (63% to 87% of children) and are 4 times more likely to have attention-deficit/hyperactivity disorder.1,18

Children with Williams syndrome typically exhibit global growth delays during the first few years of life, followed by a period of childhood catch-up growth; however, they ultimately have short stature in adulthood. Many have precocious puberty.1,19

COMPLICATIONS

Cardiovascular disease continues to be a chief concern as persons with Williams syndrome progress into adulthood.20 Many adults report worsening of preexisting supravalvular aortic stenosis.21 Hypertension may develop secondary to renal artery stenosis.20 Myocardial infarction, congestive heart failure, and stroke have also been reported with increased frequency.2 Affected persons are at increased risk for sudden death attributed mainly to coronary artery stenosis or severe biventricular outflow tract obstruction.22,23

Other associated anomalies and complications include gastroesophageal reflux, peptic ulcer disease, diverticulitis, cholelithiasis, bladder calculi, chronic urinary tract infections, premature gray hair, hypothyroidism, esotropia, bilateral inguinal hernias, joint laxity, joint contractures, scoliosis, kyphosis, lordosis, hypotonia, anxiety, and depression.2,18,20,21

DIAGNOSIS

The differential diagnosis of Williams syndrome includes supravalvular aortic stenosis, infantile hypercalcemia, autism, and Down syndrome.13,17,24,25 The unique clinical features of these conditions often allow a straightforward differentiation to be made. However, the diagnosis of Williams syndrome can be delayed because of a lack of significant clinical features during infancy.1

Suspected cases of Williams syndrome can be confirmed cytogenetically. The preferred diagnostic test is fluorescence in situ hybridization.26 In the patient described, results of this test showed a deletion of the ELN gene at 7q11.23.

TREATMENT

Treatment is largely symptomatic and supportive. A multidisciplinary approach is important; the treatment team should include a pediatrician, cardiologist, geneticist, ophthalmologist, neurologist, physiotherapist, psychologist, dentist, schoolteacher, and social worker. Support groups are also available for families (in Canada: the Canadian Association for Williams Syndrome [http://www.caws-can.org]; in the United States: The Williams Syndrome Association [http://www.williamssyndrome. org]).


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REFERENCES:
1. Morris CA, Demsey SA, Leonard CO, et al. Natural history of Williams syndrome: physical characteristics. J Pediatr. 1988;113:318-326.

2. Lashkari A, Smith AK, Graham JM Jr. Williams-Beuren syndrome: an update and review for the primary physician. Clin Pediatr (Phila). 1999;38:189-208.

3. Williams JC, Barratt-Boyes BG, Lowe JB. Supravalvular aortic stenosis. Circulation. 1961;24:1311-1318.

4. Beuren AJ, Apitz J, Harmjanz D. Supravalvular aortic stenosis in association with mental retardation and certain facial appearance. Circulation. 1962;26: 1235-1240.

5. Strømme P, Bjørnstad PG, Ramstad K. Prevalence estimation of Williams syndrome. J Child Neurol. 2002;17:269-271.

6. Ewart AK, Morris CA, Atkinson D, et al. Hemizygosity at the elastin locus in a developmental disorder, Williams syndrome. Nat Genet. 1993;5:11-16.

7. Paterson SJ, Schultz RT. Neurodevelopmental and behavioral issues in Williams syndrome. Curr Psychiatry Rep. 2007;9:165-171.

8. Urbán Z, Helms C, Fekete G, et al. 7q11.23 deletions in Williams syndrome arise as a consequence of unequal meiotic crossover. Am J Hum Genet. 1996;59: 958-962.

9. Osborne L, Pober B. Genetics of childhood disorders, pt 27: genes and cognition in Williams syndrome. J Am Acad Child Adolesc Psychiatry. 2001;40:732-735.

10. Donnai D, Karmiloff-Smith A. Williams syndrome: from genotype through to the cognitive phenotype. Am J Med Genet. 2000;97:164-171.

11. Ashkenas J. Williams syndrome starts making sense. Am J Hum Genet. 1996;59:756-761.

12. Francke U. Williams-Beuren syndrome: genes and mechanisms. Hum Mol Genet. 1999;8:1947-1954.

13. Metcalfe K, Simeonov E, Beckett W, et al. Autosomal dominant inheritance of Williams-Beuren syndrome in a father and son with haploinsufficiency for FKBP6. Clin Dysmorphol. 2005;14:61-65.

14. Mervis CB, Klein-Tasman BP. Williams syndrome: cognition, personality, and adaptive behavior. Ment Retard Dev Disabil Res Rev. 2000;6:148-158.

15. Dykens E. Anxiety, fears and phobias in persons with Williams syndrome. Dev Neuropsychol. 2003;23:291-316.

16. Klein-Tasman BP, Mervis CB. Distinctive personal characteristics of 8-, 9- and 10-year-olds with Williams syndrome. Dev Neuropsychol. 2003;23:269-290.

17. Mervis CB, Becerra AM. Language and communicative development in Williams syndrome. Ment Retard Dev Disabil Res Rev. 2007;13:3-15.

18. Leyfer OT, Woodruff-Borden J, Klein-Tasman BP, et al. Prevalence of psychiatric disorders in 4 to 16-year-olds with Williams syndrome. Am J Med Genet B Neuropsychiatr Genet. 2006;141B:615-622.

19. Partsch CJ, Dreyer G, Gosch A, et al. Longitudinal evaluation of growth, puberty, and bone maturation in children with Williams syndrome. J Pediatr. 1999;134:82-89.

20. Howlin P, Udwin O. Outcome in adult life for people with Williams syndrome— results from a survey of 239 families. J Intellect Disabil Res. 2006; 50(pt 2):151-160.

21. Lopez-Rangel E, Maurice M, McGillivray B, Friedman JM. Williams syndrome in adults. Am J Med Genet. 1992;44:720-729.

22. Bird LM, Billman GF, Lacro RV, et al. Sudden death in Williams syndrome: report of ten cases. J Pediatr. 1996;129:926-931.

23. Wessel A, Gravenhorst V, Buchhorn R, et al. Risk of sudden death in the Williams-Beuren syndrome. Am J Med Genet. 2004;127A:234-237.

24. Morris CA, Mervis CB. Williams syndrome and related disorders. Annu Rev Genomics Hum Genet. 2000;1:461-484.

25. Mervis CB, Robinson BF. Expressive vocabulary ability of toddlers with Williams syndrome or Down syndrome: a comparison. Dev Neuropsychol. 2000; 17:111-126.

26. Cagle AP, Waguespack SG, Buckingham BA, et al. Severe infantile hypercalcemia associated with Williams syndrome successfully treated with intravenously administered pamidronate. Pediatrics. 2004;114:1091-1095.

Covert processing of facial expressions by people with Williams syndrome

Covert processing of facial expressions by people with Williams syndrome:

"Although individuals with Williams Syndrome (WS) are empathic and sociable and perform relatively well on face recognition tasks, they perform poorly on tasks of facial expression recognition. The current study sought to investigate this seeming inconsistency. Participants were tested on a Garner-type matching paradigm in which identities and expressions were manipulated simultaneously as the relevant or irrelevant dimensions. Performance of people with WS on the expression-matching task was poor and relied primarily on facilitation afforded by congruent identities. Performance on the identity matching task came close to the level of performance of matched controls and was significantly facilitated by congruent expressions. We discuss potential accounts for the discrepant processing of expressions in the task-relevant (overt) and task-irrelevant (covert) conditions, expanding on the inherently semantic-conceptual nature of overt expression matching and its dependence on general cognitive level."

Early screenings can help children later in life

Updated: Early screenings can help children later in life | tallahassee.com | Tallahassee Democrat:

"Jeremy Richard was born with Williams syndrome, a rare genetic disorder of the heart that doctors said can generally lead to problems with development.

His mother, Allison Tant, knew physical and cognitive delays were most likely in Jeremy’s future, but it was the screening process when he was just 5-months-old that set her on the right path of therapies and interventions that now allow the 11-year-old to play the piano, guitar and be a successful fourth-grader who is able to function with his learning disabilities."

Retinotopically defined primary visual cortex in Williams syndrome

Retinotopically defined primary visual cortex in Williams syndrome -- Olsen et al. 132 (3): 635 -- Brain:

"Williams syndrome, caused by a hemizygous microdeletion on chromosome 7q11.23, is characterized by severe impairment in visuospatial construction. To examine potential contributions of early visual processing to this cognitive problem, we functionally mapped the size and neuroanatomical variability of primary visual cortex (V1) in high-functioning adults with Williams syndrome and age- and IQ-matched control participants from the general population by using fMRI-based retinotopic mapping and cortical surface models generated from high-resolution structural MRI. Visual stimulation, consisting of rotating hemicircles and expanding rings, was used to retinotopically define early visual processing areas. V1 boundaries based on computed phase and field sign maps were used to calculate the functional area of V1. Neuroanatomical variability was assessed by computing overlap maps of V1 location for each group on standardized cortical surfaces, and non-parametric permutation test methods were used for statistical inference. V1 did not differ in size between groups, although its anatomical boundaries were more variable in the group with Williams syndrome. V1 overlap maps showed that the average centres of gravity for the two groups were similarly located near the fundus of the calcarine fissure, ~25 mm away from the most posterior aspect of the occipital lobe. In summary, our functional definition of V1 size and location indicates that recruitment of primary visual cortex is grossly normal in Williams syndrome, consistent with the notion that neural abnormalities underlying visuospatial construction arise at later stages in the visual processing hierarchy."

Williams Syndrome and The Great Vitamin D Panic

Dr. Joe's E-News - A Diabetes Newsletter: The Great Vitamin D Panic:

"He also details the role the Williams syndrome played in the Great Vitamin D Panic. Williams syndrome is a genetic malformation that causes, among other things, infantile hypersensitivity to Vitamin D, elevated 1,25 levels even without supplemental Vitamin D, and often hypercalcemia in response to supplemental Vitamin D. (In fact, it was by studying the Williams Syndrome that I became more convinced of the relationship of Vitamin D to autism. Kids with the Williams syndrome, the only human disease with greatly elevated serum 1,25 levels around birth, grow up to have an adult personality that is the phenotypic opposite of autism, thus they are an experiment of nature.)"

Zebrafish and Williams Syndrome?

Astronomer puzzles over universe - News - ReviewJournal.com:

"Take Carl Reiber, a professor and the associate dean of the College of Sciences.

Reiber is about to launch a research project studying zebrafish in such a way that it might, he hopes, lead to a treatment for children with a rare chromosomal disorder called Williams syndrome."

foodconsumer.org - Vitamin D Theory of Autism

foodconsumer.org - Vitamin D Theory of Autism:

"Much more interesting is the fact that children with Williams Syndrome (rare congenital disorder due to a missing piece of chromosome seven) often have greatly elevated activated vitamin D levels for several months in early life. They usually present in later life with remarkable sociability, overfriendliness, empathy, and willingness to initiate social interaction—strikingly the opposite personality of autistic children. 8 9

So, abnormally-low activated vitamin D levels produce infants with symptoms of autism while abnormally-high levels produce children with personalities the exact opposite of autism."