Cornelia de Lange Syndrome / Maple Syrup Urine Disease / Rubinstean-Taybi Syndrome: teaching considerations Part two.Individuals with Cornelia de Lange Syndrome Cornelia de Lange Syndrome aka CdLS is a little known genetic disorder that can lead to severe developmental anomalies. It affects both the physical and intellectual development of a child. Exact incidence is unknown, but is estimated at 1 in 10,000 to 30,000. (CdLS), Maple Syrup Urine Disease ma·ple syr·up urine disease n. A hereditary metabolic disorder due to a deficiency of decarboxylase enzyme that leads to elevated concentrations of leucine, isoleucine, and valine in the blood and urine, characterized by the urine having an odor (MSUD MSUD maple syrup urine disease. MSUD Maple sugar urine disease, see there ), or Rubinstein-Taybi Syndrome (RTS (Request To Send) An RS-232 signal sent from the transmitting station to the receiving station requesting permission to transmit. Contrast with CTS. 1. (operating system) RTS - run-time system. 2. ) have many different medical considerations; therefore, an individualized physical education plan taught by an adapted physical education Adapted physical education is a sub-discipline of physical education. It is an individualized program created for students who require a specially designed program for more than 30 days. specialist is usually necessary. The adapted physical educator, and various other members of the motor development team (i.e., physical therapist, occupational therapist occupational therapist A person trained to help people manage daily activities of living–dressing, cooking, etc, and other activities that promote recovery and regaining vocational skills Salary $51K + 4% bonus. See ADL. , recreational therapist), should begin working with these individuals as soon as possible. Early intervention ear·ly intervention n. Abbr. EI A process of assessment and therapy provided to children, especially those younger than age 6, to facilitate normal cognitive and emotional development and to prevent developmental disability or delay. programs established in the 1980s appeared to help (Purvis and Whelan, 1992). Initially the adapted physical education specialist must collect thorough background information about medical and behavioral considerations regarding the individual from sources such as classroom teachers, aides, psychologists, parents, siblings, medical personnel, and others who know and have worked with the individual. Sharing pertinent information among professionals and parents needs to be done regularly to monitor behavior management behavior management Psychology Any nonpharmacologic maneuver–eg contingency reinforcement–that is intended to correct behavioral problems in a child with a mental disorder–eg, ADHD. See Attention-deficit-hyperactivity syndrome. . The adapted physical educator must become well acquainted with the individual for mutual trust and understanding to develop. This allows the adapted physical educator to know the individual and provide proper motivation necessary for the individual's participation in the program. Individuals with CdLS, MSUD, and RTS have mental and motor delays that can affect participation and interest in participating in physical education (Cates n. pl. 1. Provisions; food; viands; especially, luxurious food; delicacies; dainties. Cates for which Apicius could not pay. - Shurchill. Choicest cates and the fiagon's best spilth. - R. Browning. , Bilimire, Bull, & Grosfeld, 1989; Filippi, 1989; Hawley, Jackson, & Kurnit, 1985; Kline, Stanley, Belevich, Brodsky, Barr, & Jackson, 1993; Kline Barr, & Jackson, 1993; Meinecke & Hayek, 1990; Mosher A mosher is a person who is crossed between goth/punk/skater they have long hair and listen to music like slipknot and metal music. Some people call them headbangers. At certain music shows they have something called a mosh pit, basically its a fight pit with loads of people bashing each other. , Schuite, Kapian, Buehler, & Sanger, 1985; Opitz, 1985; Rubinstein, 1990). Because of apparent disinterest dis·in·ter·est n. 1. Freedom from selfish bias or self-interest; impartiality. 2. Lack of interest; indifference. tr.v. To divest of interest. Noun 1. in physical activities to control weight and fully develop the cardio respiratory system respiratory system: see respiration. respiratory system Organ system involved in respiration. In humans, the diaphragm and, to a lesser extent, the muscles between the ribs generate a pumping action, moving air in and out of the lungs through a , it is important these individuals have positive experiences in physical activities with friends, family members, and in various school programs. The teacher should assess abilities of each individual on a regular basis and utilize teaching techniques encouraging the individual to improve weaknesses. At the same time, the individual needs to use learned strengths, with the teacher making appropriate modifications and manually assisting when needed. Accurate records of participation, skill acquisition, and behavior management techniques utilized for each individual are important for monitoring individual progress and programs. Dealing With Mental Retardation mental retardation, below average level of intellectual functioning, usually defined by an IQ of below 70 to 75, combined with limitations in the skills necessary for daily living. Individuals with CdLS, MSUD, and RTS usually possess mental retardation, although degrees of retardation vary (CdLS Foundation, 1993; Naughten, Jenkins, Francis, & Leonard; Naylor, 1985; Potashnick, Carmi, Sofer sofer or sopher In Judaism, a scholar-teacher of the 5th–2nd centuries BC who transcribed, edited, and interpreted the Bible. The first sofer was Ezra, who, with his disciples, initiated a tradition of rabbinical scholarship that is still central in , Bashan, & Abeliovich, 1987; Snyderman, 1988; Rubinstein, 1990; Subramanyam, Quadri, Dhalla, & Ozand, 1990: Uziel, Savoiardo, & Nardoccii, 1988). The adapted physical education specialist must be aware of the degree of retardation of each individual, since this affects instructional techniques. Some suggestions for teaching students with mental retardation, as presented by Seaman and De Pauw (1989) were found to be pertinent in trial and error experiences of the author with a student possessing RTS, including-- * Simplify and sequence instruction using short simple sentences. * Praise attempts and reinforce performance with social praise (do not use food). * Include structure and routine while stressing safety. * Use tactile and kinesthetic kin·es·the·sia n. The sense that detects bodily position, weight, or movement of the muscles, tendons, and joints. [Greek k cues and physical shaping if necessary. * Provide opportunities for increased emotional adaptability by systematically and slowly changing structure. * Use demonstrations by teachers, aides, and other individuals. Due to limitations in attention span for some individuals with CdLS, MSUD, and RTS, when teaching new tasks consider using task variation with new tasks interspersed with maintenance tasks. This approach was highly successful for the boy with whom I worked in teaching the gross motor skills needed to walk, run, throw, kick, jump, and slide (Weber, 1995; Weber, 1996; Weber, 1997a-i; Weber & Hanna, 1998; Weber & Hisey, 1997; Weber, 1989; Weber, 2001; Weber, Hisey, & Harris, 2003). Examples of how to utilize the task variation teaching method with special populations in physical education were presented by Weber (1989). In this method of teaching, the teacher intersperses new tasks with those previously learned, changing the activity every 3-5 minutes, or whatever the attention span of the individual might permit. The teacher moves from one activity to the next until four or more activities or skills have been covered, then beginning the skill rotation again. Reduced student-teacher ratios, such as one-to-one or one-to two or three, are required due to combinations of physical, mental, and behavioral problems, so as to meet individual and unique needs. The I CAN program (Wessel, 1976), developed for individuals with mild and moderate mental retardation, has been successfully utilized with individuals with CdLS, MSUD, and RTS to improve gross motor skills (Weber, 1995; Weber, 1996; Weber, 1997a-i; Weber & Hanna, 1998; Weber & Hisey, 1997; Weber, 1989; Weber, 2001; Weber, Hisey, & Harris, 2003). Materials from this program can easily be copied and sent home as homework for parents or siblings to work with the individual. Specific focal points are given for a parent to observe, with suggestions given as to how to communicate and teach each skill step by step. Dealing With Motor Delays Individuals with CdLS were reported by several writers to have psychomotor retardation Psychomotor retardation Slowed mental and physical processes characteristic of a bipolar depressive episode. Mentioned in: Bipolar Disorder psychomotor retardation or motor delays (Cameron & Kelly, 1988; Halal ha·lal Islam n. Meat that has been slaughtered in the manner prescribed by the shari'a. adj. 1. Of or being meat slaughtered in the prescribed way: a halal butcher; a halal label. & Silver, 1992; Hawley et al., 1985; Meinecke & Hayek, 1990; Mosher et al., 1985). However, Purvis and Whelan (1992) reported early intervention programs decreased prevalence of motor delays in individuals with CdLS. Children with MSUD at birth appear to be normal. The single most important factor is early detection through screening, so protein levels do not begin to escalate. Screening for MSUD is not standard procedure in most locations, so children with MSUD may continue to have various neurological problems affecting tendon reflexes and muscle tone--these problems usually cause motor delays. In reviewing the literature, consistent abnormality in muscle tone was not apparent. Several authors reported hypertonicity hypertonicity /hy·per·to·nic·i·ty/ (-to-nis´i-te) the state or quality of being hypertonic. hypertonicity the state or quality of being hypertonic. up to day 4-7, and then hypotonicity hypotonicity ↓ Muscle tone; limp muscles (Brismar, Aqeel, Brismar, Coates, Gascon Gascon inhabitant of Gascony, France; people noted for their bragging. [Fr. Hist.: NCE, 1049] See : Boastfulness , & Ozand, 1990; Feng, Chow, & Chan, 1986; Nord, van Doorninck, & Greene, 1991). Since early intervention is important for both hypertonic hypertonic /hy·per·ton·ic/ (-ton´ik) 1. denoting increased tone or tension. 2. denoting a solution having greater osmotic pressure than the solution with which it is compared. and hypotonic hypotonic /hy·po·ton·ic/ (-ton´ik) 1. denoting decreased tone or tension. 2. denoting a solution having less osmotic pressure than one with which it is compared. children to prevent motor delays, a program encouraging physical activity and motor patterning of various muscle groups is extremely important. Since RTS individuals were considered hypotonic at early ages (Rubinstein, 1990; Mazzone, Milan, Pratico, & Reitano, 1989) and had early signs of motor delay (Moran, Calthorpe, McGoldrick, Fogarty, & Dowling, 1993; Robinson, Stewart, & Hersh, 1993; Marcus-Harel, Silverstone, Seelenfreund, Schurr, & Berson, 1991; Hennekam, Van Den Boogaard, Sibbles, & Van Spijker, 1990; Rubinstein, 1990; Ramakrishnan, Sharma, Ramakrishnan, Parihar, Sharma, & Kanther, 1990), a program encouraging physical activity and motor patterning of various muscle groups was essential. Problems of hypotonisity and motor delay appeared to have a number of possible causes in individuals with RTS. Partington (1990) reported major neurological problems that could be the answer. However, Rubinstein (1990) cited lax ligaments, hyperextensible joints in 70% of cases reported, and hyperactive deep tendon reflexes in 53% of cases. Moran, Calthorpe, McGoldrick, Fogarty, and Dowling (1993) reported joint laxity laxity /lax·i·ty/ (lak´si-te) 1. slackness or looseness; a lack of tautness, firmness, or rigidity. 2. slackness or displacement in the motion of a joint.lax´ laxity looseness. , and strongly suggested all individuals with RTS be evaluated for congenital dislocations of the patella patella (pətĕl`ə): see kneecap. . Examples of early intervention techniques successful with both individuals with CdLS and MSUD included sensory stimulation sensory stimulation, n in acupuncture, the practice of inserting needles into skin and tissue to coax the body into using its energy to heal itself. , positioning and placement strategies, rhythmic stereotypes, utilizing objects to motivate actions, and good therapy hands (manual assistance) recommended for hypotonic children by Cratty (1989). Many of these same intervention techniques, with the addition of straddle In the stock and commodity markets, a strategy in options contracts consisting of an equal number of put options and call options on the same underlying share, index, or commodity future. activities and pool therapy, were also recommended for hypertonic children (Cratty, 1989). Activities in the swimming pool are excellent for muscular strengthening when brisk deep tendon reflexes are involved. However, the adapted physical educator needs to have excellent control of pool and room temperatures to control bacterial levels in and around the pool. This is important because colds and other childhood diseases can cause metabolic imbalances in individuals with MSUD (Subramanyam, Qadri, Dhalla, & Ozand, 1990). Weber & Weber (1995) developed a pool exercise program entitled Aquacise: Fish Do It which has been successfully utilized for individuals with various disabilities involving tight tendons and brisk tendon reflexes. Young school age children with CdLS, MSUD, and RTS often demonstrate motor delays and lack coordination, as a result of possible reduced stimuli and over protection by parents. Both of these groups need a good physical education program emphasizing basic gross motor skills and eye hand/eye foot coordination. Results of studies by Weber,1995; Weber, 1996; Weber, 1997a-i; Weber & Hanna, 1998; Weber & Hisey, 1997; Weber,1989; Weber, 2001; Weber, Hisey, & Harris, 2003) involving gross motor skills of run, walk, throw, jump, kick, and slide suggested individuals with CdLS, MSUD, and RTS could benefit from early intervention and gross motor programs. Previously developed physical education programs, currently on the market, can be utilized for youngsters with CdLS, MSUD, and RTS, including 1 CAN (Wessel & Kelly, 1985), Data-Based Gymnasium System (Dunn, Morehouse, & Fredericks, 1986), Ohio State Motor Development Program (Loovis & Ersing, 1979), AlMS Program (Strauss & De Oreo, 1979), and Body, Skills (Werder & Bruininks, 1988). Dealing with Hearing and Communications Difficulties for Cornelia de Lang Syndrome Several authors identified the commonality of hearing and speech difficulties in individuals with CdLS (Cameron & Kelly, 1988; Halal & Silver, 1992; Sataloff et al., 1990; Goodban, 1992; Goodban, 1993; Kline et al., 1993). These individuals tended to vocalize with low-pitched cries and, if capable of speech, generally spoke in monotones (Fraser & Campbell, 1978: Johnson, Ekman, & Friesen, 1976); so, in large gymnasia with others actively playing, it may be difficult to hear an individual trying to communicate. Since the adapted physical education specialist and/ or physical therapist should be part of the early intervention team required by PL 99457, it is important for team members to be aware of the hearing status of the individual. Goodban (1993) reported almost all individuals with CdLS were diagnosed with mild to moderate, and sometimes severe, hearing losses. She suggested speech therapy start as young as 8 months of age. Initial procedures included continued stimulation and reinforcement for any imitations, both nonverbal and verbal. Goodban (1993) recommended use of noise-making objects, and the teacher provide maximum visual and auditory stimulation, while encouraging attending behavior. Adapted physical educators could provide visual and auditory stimulation through use of beeper beeper - pager balls, objects that make noise or by using bright colors, shapes, numbers, and other such valuable material. For some individuals with CdLS, non-vocal or non-verbal strategies need to be considered. Since it may not be possible to know the extent of hearing an individual may have until 6 or 7 years of age, the physical educator and others working with the individual should utilize a total communications approach, combining verbal words with sign language or pictures. In these cases the adapted physical educator may want to communicate using pictures similar to using a communications board or American Sign Language American Sign Language n. The primary sign language used by deaf and hearing-impaired people in the United States and Canada. American Sign Language (ASL), n. (ASL ASL - Algebraic Specification Language ). Kalakian and Eichstaedt (1982) included several pages of commonly used words signed in physical education. When working with very young individuals, it is also very important bilingual families and teachers only utilize one language, preferably the one used at school to promote learning of language (Goodban, 1993). With technical advancements occurring, a lap top computer and various computer games may be a means of the future to communicate and teach game concepts to individuals with CdLS. Certain activities may be contraindicated because middle ear difficulties seem to be common in individuals with CdLS (Sataloff et al., 1990), so the adapted physical educator needs to watch for possible balance problems. Dunn and Fait (1989) recommended activities of: standing on one foot, standing on the balance beam, walking the line, balancing objects on the head, and walking on a resilient surface, to improve balance for elementary school-aged children. Dealing with Visual Problems for Cornelia de Lang Syndrome Levin, Seidman, Nelson, and Jackson (1990) stated 46 oculofacial abnormalities had been reported in children with CdLS. Levi n, a member of the CdLS Foundation's Scientific Advisory Committee, recommended, "All children with CdLS be evaluated by a pediatric pediatric /pe·di·at·ric/ (pe?de-at´rik) pertaining to the health of children. pe·di·at·ric adj. Of or relating to pediatrics. eye doctor at a young age" (CdLS Foundation, 1993). Most common eye difficulties associated with CdLS are nearsightedness nearsightedness or myopia, defect of vision in which far objects appear blurred but near objects are seen clearly. Because the eyeball is too long or the refractive power of the eye's lens is too strong, the image is focused in front of the , recurrent redeye, discharge, or tearing, and droopy droop v. drooped, droop·ing, droops v.intr. 1. To bend or hang downward: "His mouth drooped sadly, pulled down, no doubt, by the plump weight of his jowls" eyelids eyelids, n.pl a moveable fold of thin skin over the eye. The orbicularis oculi muscle and the oculomotor nerve control the opening and closing of the eyelid. (ptosis Ptosis Definition Ptosis is the term used for a drooping upper eyelid. Ptosis, also called blepharoptosis, can affect one or both eyes. Description The eyelids serve to protect and lubricate the outer eye. ) (CdLS Foundation, 1993). Levin et al. (1990) additionally reported 36% of individuals with CdLS had nystagmus Nystagmus Definition Rhythmic, oscillating motions of the eyes are called nystagmus. The to-and-fro motion is generally involuntary. Vertical nystagmus occurs much less frequently than horizontal nystagmus and is often, but not necessarily, a sign of , 86% ocular alignment difficulties, and 86% some type of refraction refraction, in physics, deflection of a wave on passing obliquely from one transparent medium into a second medium in which its speed is different, as the passage of a light ray from air into glass. and visual activity difficulties. Each of these conditions could adversely affect throwing, catching, and any other eye-hand or eye-foot coordination skills, and use of glasses, contact lens contact lens, thin plastic lens worn between the eye and eyelid that may be used instead of eyeglasses. Actors, models, and others wear them for appearance, and athletes use them for safety and convenience. , and/or eye exercises to correct these difficulties is essential. Combination of small hand size, motor delays, and visual difficulties has had major impacts in developing catching skills utilized in so many sports and games sports and games Recreational or competitive activities that involve physical skill, intellectual acumen, and often luck (especially in the case of games of chance). Play is an integral part of human nature. . These difficulties combined with the natural reaction of many youngsters to close their eyes as a ball approaches the face region, adversely impact catching. To address difficulties in catching, utilization of a very structured teaching progression is necessary. Starting these individuals catching a rolled and then bounced ball before a fly ball is recommended. Before progressing to a thrown fly ball a teacher would be wise to utilize a suspended ball that can be swung to the individual below shoulder height, and/or balloons slowing this action. In beginning attempts to catch a fly ball it is imperative the teacher always keeps the ball under shoulder height and begins conditioning the individual to force the eyes to be big and wide when attempting to catch a ball. A fun verbal prompt to utilize when conditioning a child to keep the eyes open wide is to say "bug eyes;" the teacher might even take an old set of sun glasses and tape a set of big eyes on them as a reminder. It is important with all individuals, including those with CdLS, to be conditioned to open the eyes as wide as possible. If a ball is lobed lobed adj. Having a lobe or lobes: lobed leaves. Adj. 1. lobed - having deeply indented margins but with lobes not entirely separate from each other lobate for the individual to catch, natural reaction is for the individual to track the ball to head height, then as it passes the eyes on its way to the outstretched out·stretch tr.v. out·stretched, out·stretch·ing, out·stretch·es To stretch out; extend. outstretched Adjective hands, the eyes reflexively close, and the ball hits the hands before being dropped. Since individuals with CdLS usually display motor delays, this may not be accomplished as rapidly as hoped. Dealing with Visual Problems for Rubinstein-Taybi Syndrome Many different visual impairments have been associated with RTS, including strabismus strabismus (strəbĭz`məs), inability of the eyes to focus together because of an imbalance in the muscles that control eye movement; also called squint. , refractive errors, drooping droop v. drooped, droop·ing, droops v.intr. 1. To bend or hang downward: "His mouth drooped sadly, pulled down, no doubt, by the plump weight of his jowls" eyelid eyelid /eye·lid/ (-lid) either of two movable folds (upper and lower) protecting the anterior surface of the eyeball. eye·lid or eye-lid n. , and nasal duct obstruction (Volcker & Haase, 1975). Forty-five percent of all of these individuals must wear glasses for correcting refraction errors (Hennekam, Van Den Boogaard, Sibble, & Van Spijker, 1990). Lesions or defects of the eye, cataracts, intrauterine intrauterine /in·tra·uter·ine/ (-u´ter-in) within the uterus. in·tra·u·ter·ine adj. Within the uterus. Intrauterine Situated or occuring in the uterus. inflammation of cornea/corneal white or opaque/congenital corneal corneal pertaining to the cornea. See also keratitis, keratopathy. corneal anomaly includes microcornea, coloboma, megalocornea, dermoid, congenital opacity. corneal black body see corneal sequestrum (below). scar, and glaucoma are other visual problems reported (Ziring, Weiss, & Cooper, 1974). High percentage of refraction errors could adversely affect throwing, catching, and other eye-hand or eye-foot coordination skills, if not corrected with glasses. Since 74% of individuals with RTS have IQs below 50, getting a proper correction through glasses is quite difficult. Dealing with Physical Fitness Factors for Rubinstein-Taybi Syndrome When dealing with physical fitness factors in individuals with RTS, obesity (Partington, 1990), respiratory problems, congenital heart detects, problem with glucose metabolism glucose metabolism, n the process by which simple sugars found in many foods are processed and used to produce energy in the form of ATP. Once consumed, glucose is absorbed by the intestines and into the blood. , and seizures must all be considered. With the many components involved, it is imperative the adapted physical educator work closely with the physician of the individual. If the individual has a history of seizures, the teacher must know how to respond in case of a seizure and must understand side effects Side effects Effects of a proposed project on other parts of the firm. of any medications being utilized. In case an individual has hypoglycemia hypoglycemia: see diabetes. hypoglycemia Below-normal levels of blood glucose, quickly reversed by administration of oral or intravenous glucose. Even brief episodes can produce severe brain dysfunction. or diabetes, the adapted physical educator needs to communicate with parents and the physician to regulate the student's medications or diet, since diet, exercise, and insulin levels must be monitored. Because both respiratory and heart abnormalities are factors, it is highly recommended a complete physical exam, including stress test, be performed by a physician. Program considerations and intensities of activities need to follow closely the program recommendations by the physician. A graded exercise program, similar to that used by heart patients may need to be followed. At the very least, an age-adjusted target range for heart rate should be monitored and exercise discontinued if respiratory problems develop. Because of other possible medical problems and obesity, maintaining a healthy weight for stature is important. Based upon personal experience of this author with an individual having RTS, strict observation of caloric-intake, in conjunction with 30 to 60 minutes of daily physical activity are recommended. Aerobic activities, such as swimming, jogging, biking, rowing, canoeing, and cross-country skiing are excellent in moderation, once the skill is learned. Selected References Brismar, J., Aqeel, A., Brismar, G., Coates, R., Gascon, G., & Ozand, P. (1990). American Journal of Neuroradiology neuroradiology /neu·ro·ra·di·ol·o·gy/ (-ra?de-ol´ah-je) radiology of the nervous system. neu·ro·ra·di·ol·o·gy n. 1. The branch of radiology that deals with the nervous system. , 11, 1219-1228. Cameron. T.J., & Kelly, D.R (1988). Normal language skills and normal intelligence in a child with de Lange Syndrome. Journal of Speech and Hearing Disorders hearing disorders, n.pl a structural or functional impairment of the ability to detect and recognize sound. hearing disorders, indications of, n. , 53, 219-222. Cates, M., Billmire. D.F., Bull, MJ., & Grosfeld, J.L. (1989). Gastroesophageal gastroesophageal /gas·tro·esoph·a·ge·al/ (-e-sof?ah-je´al) 1. pertaining to the stomach and esophagus. 2. proceeding from the stomach to the esophagus. CdLS Foundation (1993). Facing the challenges: A family's guide to Cornelia de Lange Syndrome. Collinsville, CT: CdLS Foundation, Inc. Cornelia de Lange Syndrome Foundation. (1994). Album. (Available from Cornelia de Lange Syndrome Foundation, Inc., 60 Dyer Avenue, Collinsville, CT 06022-1273). Cratty, B .J. (1989). Adapted physical education in the mainstream (2nd edition). Denver, CO: Love Publishing Company. Dunn, J .. & Fait, H. (1989). Special Physical education: Adapted, individualized, developmental (6th edition). Dubuque, IA: Wm. C. Brown Publishers. Dunn, J.M., Morehouse, J .W., & Fredericks, H. (1986). Physical education for the severely handicapped: A systematic approach to a data-based gymnasium. Austin, TX: Pro-Ed Publishers. Feng, K., Chow, K., & Chan, Y. (1985). Maple Syrup Urine Disease in Chinese. Chinese Medical Journal, 99(2), 119 120. Filippe, G. (1989). The de Lange Syndrome. Report of 15 cases. Clinical Genetics clinical genetics n. The study of the possible genetic determinants affecting the occurrence of diseases and disorders. , 35,343-363. Fraser, W.I., & Campbell, B.M. (1978). A study of six cases of de Lange Amsterdam dwarf syndrome, with special attention to voice, speech and language characteristics. Developmental Medicine and Child Neurology, 200-270. Goodban, M. (1992). Developing speech and language skills in children and adolescents with Cornelia de Lange Syndrome. Workshop conducted at the Cornelia de Lange Foundation, Boston, MA. Goodban, M. T. (1993). Survey of speech and language skills with prognostic indicators in 116 patients with Cornelia de Lange Syndrome. American Journal of Medical Genetics medical genetics n. The study of the etiology, pathogenesis, and natural history of diseases and disorders that are at least partially genetic in origin. , 47, 1059-1063. Halal, F., & Silver, K. (1992). Syndrome of microcephaly microcephaly /mi·cro·ceph·a·ly/ abnormal smallness of the head.microcephal´ic mi·cro·ceph·a·ly n. Abnormal smallness of the head. Also called nanocephaly. , Brachmann-de Lange like facial changes severe metatarsus adductus metatarsus adductus Forefoot varus Orthopedics A foot deformity characterized by a sharp inward angle of the front half of the foot; flexible deformity; the foot can be straightened and poses little risk for the infant; most cases resolve voluntarily; the rest , and developmental delay developmental delay n. A chronological delay in the appearance of normal developmental milestones achieved during infancy and early childhood, caused by organic, psychological, or environmental factors. : Mil Brachmann de Lange Syndrome. American Journal of Medical Genetics, 42, 381-386. Hawley, S.P., Jackson, L.G., & Kurnit, D.M. (1985). Sixty-four patients with Brachmann-de Lange syndrome: A survey. American Journal of Medical Genetics, 20, 453-459. Hennekam, R., Van Den Boogaard, M. J., Sibbles, B. J., & Van Spijker, H. G. (1990). Rubinstein-Taybi syndrome in the Netherlands. American Journal of Medical Genetics Supplement, 6, 17-29. Hennekam, R., Stevens, C.A., & Van De Kamp, J.J.P. (1990). Etiology. Genetics Supplement. 6, 55-64. Johnson, J.G., Ekman, P., & Friesen, W. (1976). A behavioral phenotype in the de Lange syndrome. Pediatric Research, 10, 843-850. Kalakian, L.H., & Eichstaedt, C.B. (1982). Developmental/adapted physieal education: Making ability count. Minneapolis, MN: Burgess Publishing Company. Kline, A.D., Barr, M., & Jackson, L. G. (1993). Growth manifestations in the de Lange Syndrome. American Journal of Medical Genetics Supplement, 47(7), 1042-1049. Kline, A.D., Stanley, C., Belevich, J., Brodsky, K., Barr, M., & Jackson, L.G. (1993). Developmental data on individuals with the de Lange Syndrome. American Journal Medical Genetics, 47(7), 1053 1058. Levine, A.V., Seidman, D.J., Nelson, L.B., & Jackson, L.G. (1990). Opthalmologic findings in the Cornelia de Lange Syndrome. Journal of Pediatric Ophthalmalogy and Strabismus, 22(2), 94-102. Loovis, E.M., & Ersing, W.G. (1979). Assessing and programming gross motor development for children (2nd edition). Bloomington, IN: College Town Press. Marcus-Hard, T., Silverstone, B.Z., Seelenfreund, M., Schurr, D., & Berson, D. (1991). Retinal detachment with high myopia myopia: see nearsightedness. in the Rubinstein-Taybi syndrome. MetabolicPediatric and Systemic Ophthalmology, 14, 31-34. Mazzone, D., Milana, A., Pratico, G., & Reitano, G. (1989). Rubinstein-Taybi syndrome associated with Dandy-Walker cyst cyst, abnormal sac in the body, filled with a fluid or semisolid and enclosed in a membrane. Cysts can be congenital but are usually acquired, the most common locations being the skin and the ovaries. : Case report in a newborn. Journal of Perinatal Medicine, 17, 381-384. Meinecke, P., & Hayek, J. (1990). Brief historical note on the Brachmann-de Lange Syndrome: A Patient closely resembling the case described by Brachmann in 1916. American Journal of Medical Genetics, 35,449-450. Moran, R., Calthorpe, D., McGoldrick, F., Fogarty, E., & Dowling, F. (1993). Congenital dislocation of the patella in Rubinstein-Taybi syndrome. Irish Medical Journal, 86(1), 34-35. Mosher, G.A., Schulte, R.L., Kaplan, P.A., Buehler, B.A., & Sanger, W. G. (1985). Brief clinical report: Pregnancy in a woman with the Brachmann-de Lange Syndrome. American Journal of Medical Genetics, 22, 103-107. Naughten, E.R., Jenkins, J., Francis, D.E.M., & Leonard, J.V. (1982). Outcome of Maple Syrup Urine Disease. Archives of Diseases of Childhood, 101, 553. Nord, A., van Doorninck, W.J., & Greene, C. (1991). Developmental profile of patients with Maple Syrup Urine Disease. Journal of Inherited Metabolic Diseases, 14, 881-889. Opitz, J.M. (1985). Editorial comment: The Brachmann-de Lange Syndrome. American Journal of Medical Genetics, 22, 89-102. Partington, M.W. (1990). Rubinstein-Taybi syndrome: A follow-up study. American Journal of Medical Genetics Supplement, 6, 65-71. Potashnik, R., Carmi, R., Sofer, S. Bashan, N., & Abeliovicb, D. (1987). Maple Syrup Urine Disease in a Bedouin tribe: Prenatal and postnatal postnatal /post·na·tal/ (-na´t'l) occurring after birth, with reference to the newborn. post·na·tal adj. Of or occurring after birth, especially in the period immediately after birth. diagnosis. Israel Journal of Medical Sciences, 23, 886-889. Purvis, P., & Whelan, R.J. (1992). Collaborative planning between pediatricians and special educators. In Christopherson, E.R., & Levine, M.D. (Eds). Development and behavior: Older children and adolescents (Vol. 39, pp. 451-469). Philadelphia: W. B. Saunders Co., Pediatric Clinics of North America. Ramakrishnan, S., Sharma, D.C., Ramakrishnan, V., Parihar, RS., Sharma, S., & Kanther, D.K. (1990). Rubinstein-Taybi syndrome. Indian Pediatrics, 27, 404-405. Robinson, T., W., Stewart, D.L. & Hersh, J. H. (1993). Monozygotic twins Concordant for Rubinstein-Taybi syndrome and implications for genetic counseling. American Journal of Medical Genetics, 45, 671-673. Rubinstein, J.H. (1990). Broad thumb-hallux (Rubinstein-Taybi) syndrome 1957-1988. American Journal of Medical Genetics Supplement, 6, 3-16. Sataloff, R.T., Spiegal, J.R., Hawkshaw Hawkshaw implacable detective with photographic memory. [Br. Lit.: The Ticket-of-Leave Man, Barnhart, 546] See : Sleuthing , M., Epstein, J.M., & Jackson, L. (1990). Cornelia de Lange Syndrome: Otolaryngolgic manifestations. Archives of Otolaryngology Head & Neck Surgery, 116, 1044-1046. Seaman, J.A., & De Pauw, K.P. (1989). The new physical education: A Developmental approach (2nd edition). Mountain View, CA: Mayfield Publishing Company. Snyderman, S.E. (1988). Treatment outcome of Maple Syrup Urine Disease. Aeta Pacdiatrie Japan, 30, 417-424. Strauss, R., & DeOreo, K. (1979). AIMS, assessment manual and activities manual. Austin, TX: Education Service Center. Subramanyam, S .B., Qadri, S .M., Dhalla, M.B., & Ozand' P.T. (1990). The diagnosis and management of MSUD in Saudi Arabia by using two different methods. Indian Journal of Pediatrics, 57, 717-721. Uziel, G., Savoiardo, M., & Nardocci, N. (1988). CT and MRI CT and MRI Two high technology methods of creating images of internal organs. Computerized axial tomography (CT or CAT) uses x rays, while magnetic resonance imaging (MRI) uses magnet fields and radio-frequency signals. Both construct images using a computer. in Maple Syrup Urine Disease. Neurology, 486-488. Volker, H.E., & Haase, W. (1975). Augensymptosmatik beim Rubinstein-Taybi syndrome. Klin Monatsbi Augenheilkd, 167, 478-483. Weber, R.C. (1989). Utilizing task variation in adapted PE to motivate and teach disabled students. Journal of Physical Education, Recreation and Dance, 60(2), 85-87. Weber, R. (1995). Kinematic kin·e·mat·ics n. (used with a sing. verb) The branch of mechanics that studies the motion of a body or a system of bodies without consideration given to its mass or the forces acting on it. analysis of the gait of a female with Maple Syrup Urine disease. In (Ed.), Adapted Physical Activity: Proceeding from the 10th International Symposium on Adapted Physical Activity, Oslo & Beitostolen, Norway. Weber, R. (1996). Kinematic analysis of the gait of a male with Rubinstein-Taybi syndrome. Research Quarterly, 67, 124. Weber, R. (1997a). Kinematic analysis of running for a female with Cornelia de Lange syndrome. Paper presented at the 114 International Symposium for Adapted Physical Activity, Quebec, Canada. Weber, R. C. (1997b). (Kinematic analysis of the jump for Cornelia de Lange Syndrome) Unpublished raw data. Weber, R. C. (1997c). (Kinematic analysis of the kick for Cornelia de Lange Syndrome) Unpublished raw data. Weber, R. C. (1997d). (Kinematic analysis of the slide for Cornelia de Lange Syndrome) Unpublished raw data. Weber, R. C. (1997e). (Kinematic analysis of the throw for Cornelia de Lange Syndrome) Unpublished raw data. Weber, R. C. (1997f). (Kinematic analysis of jumping pattern of a male with Rubinstein-Taybi syndrome) Unpublished raw data. Weber, R. C. (1997g). (Kinematic analysis of kicking pattern of a male with Rubinstein-Taybi syndrome) Unpublished raw data. Weber, R. C. (1997h). (Kinematic analysis of sliding pattern of a male with Rubinstein-Taybi syndrome) Unpublished raw data. Weber, R. C. (1997i). (Kinematic analysis of the throwing pattern of a male with Rubinstein-Taybi syndrome) Unpublished raw data. Weber, R. (2001). Kinematic analysis of the running pattern of a male with Rubinstein-Taybi syndrome. In D. Beaver (Ed.), Adapted Physical Activity Conference Proceedings for the Worm Congress & Exposition on Disabilities (208210). Macomb: Western Illinois University For another university which uses the abbreviation "WIU", see Webber International University Athletics
Weber, R., & Hanna, M. (1998). Kinematic analysis of the gait changes in a female with Maple Syrup Disease subsequent to participation in adapted physical education: A case study. Journal of The International Council for Health, Physical Education, Recreation, Sport and Dance, 34(3), 42-49. Weber, R., Hisey, P., & Harris, H. (2003). Kinematic analysis of the changes in gait pattern of a female with Cornelia de Lange Syndrome. In 14th International Symposia on Adapted Physical Activity Abstracts. Seoul, South Korea: IFAPA IFAPA Iowa Foster and Adoptive Parents Association . Weber, R.C., & Hisey, P. (1997). Kinematic analysis of the running pattern of a female with Cornelia de Lange Syndrome subsequent to participation in adapted physical education: A case study. Manuscript submitted for publication. Weber, R., & Weber, N. (1995). Aquacise: Fish do it. In (Ed.), Adapted Physical Activity: Proceeding from the 10th International Symposium on Adapted Physical Activity. Oslo & Beitostolen, Norwary. Werder, J.K., & Bruininks, R.H. (1988). Body skills: A motor development curriculum for children. Circle Pines, MN: American Guidance Service. Wessel, J. (1976). 1 CAN program. Northbrook, IL: Hubbard Scientific Company. Wessel, J., & Kelly, L. (1985). Achievement-based curriculum development in physical education. Philadelphia: Lea & Febiger. Ziring, ER., Weiss, D.I., & Cooper, L.Z. (1974). The association of congenital Glaucoma with the Rubinstein-Taybi syndrome. Journal of Pediatric Ophthalmology, 11, 203. Robert C. Weber is Coordinator of Adapted Physical Education at the University of Wisconsin Oshkosh. The Adapted Physical Education Program at the University of Wisconsin Oshkosh is a full minor program based on APENS APENS Association of Professional Engineers of Nova Scotia competencies and student engagement with individuals with disabilities in all of the courses. Dr. Weber has been conducting research involving individuals with genetic disorders for the past 25 years and encourages those in our field to visit the new UWO UWO University of Western Ontario UWO Unit Watts Out UWO University Wisconsin Oshkosh UWO Unix, Windows, OS/2 (DB2) UWO Undersea Warfare Office UWO Underwater Ordnance UWO Under Will Of (legal) Adapted Physical Activity Web Site http ://www.uwosh.edu/adaptedpe |
|
||||||||||||||||||

Printer friendly
Cite/link
Email
Feedback
Reader Opinion