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Name Anita Frisone
Gender Female
Diagnosis 10q (10q24.2-qter)
Parents Daniele and Fabiana Frisone
City Rome, Italy
Email daniele.frisone[at]gmail[dot]com
June 30, 2010
Anita was born at 9 a.m. by a planned caesarean section. 2130g birth weight and 45cm in length. From the seventh month of pregnancy we were aware of child growth retardation due to ultrasound. At 12:30 p.m. the doctors warn us that because of facial dysmorphism such as low-hanging ears, eyes down, syndactyly between the second and third toes, small mouth, narrow shoulders, saddle nose, suspected genetic problems. She was hospitalized for 12 days as they checked: chest X-ray, CT skull, heart ultrasound, brain ultrasound, hearing test and eye exam. All of them reported nothing wrong. She didn't feed well so doctors put a nasogastric tube for the period hospitals and she reached a minimum weight of 1905g. They discharged her from the hospital when she weighed 2000g. Everything is going well except that we find it hard to give her milk with bottle feeding, crying while eating. At three months old, a kidney ultrasound showed a pielectasia 6mm to be checked after 5 months. Ultrasound of the hips were normal. Vaccines given as normal. On February 22, they reported there were problems on chromosome 21, but on March 12 they said the problem was in chromosome 22. On March 19, Anita's problem was defined as partial trisomy of chromosome 10 on 22. The mutation is de novo. Karyotype's result is "arr CGH (10q24.2qter) (A_14_P12460-> A_14_P129951), given by the hospital "Gemelli" in Rome. The genetist diagnose possible psychomotor retardation so we started kinesitherapy on April 14. Nowadays Anita is growing well (she's about 6300g and 62cm tall). Only two cases of a cold with fever, May 25 and June 28.

Anita is not hypotonic, is very attentive to the objects and television. She doesn't eat much but is growing. She likes homogenized fruit and homogenized yoghurt. She smiles very little to external stimuli. She's a bit slow to take objects but takes them. She's very attracted to the movement of hands. She holds her head perfectly aligned, she sits with support because she has a bit of a hump.

Dec 2, 2016

Anita compie 7 anni.
Anita ha iniziato quest'anno la prima elementare. Lei comunica con i compagni e le maestre tramite la LIS (lingua dei segni). Ora stiamo pensando di provare a comunicare tramite la comunicazione aumentativa (CAA). Lei porta quotidianamente gli apparecchi acustici con beneficio ma non parla, dice solo "mamma" e chiama il fratello "ale". Lei è una bambina molto curiosa,lei ha iniziato ad usare i tablet, ma non è precisa nell'uso delle dita, e ad interessarsi ai programmi della televisione. Lei gioca con i bambolotti ed i pelouches, soprattutto di cane. Lei Ama molto gli animali e non ha paura degli insetti, ci gioca tranquillamente in giardino. Lei ora si arrabbia come tutti i bimbi e incrocia le braccia offesa. Lei ora prova ad andare in bagno da sola con successo, mettiamo il pannolino solo di notte. Lei ora cammina tranquillamente da sola, riesce a saltare a piedi pari ed a salire e scendere i gradini autonomamente, un gradino ogni passo. Lei quest'anno per la prima volta non ha avuto paura del mare e lei si fa il bagno tranquillamente con i braccioli. Lei ha subìto due interventi chirurgici ai denti da latte, le hanno tolto gli incisivi e qualche molare cariato. Ora aspettiamo che le crescano i denti nuovi. Continua a mangiare cibi frullati, non sopporta cibo intero in bocca, ma ora finalmente ci avvisa quando ha fame. Lei da ottobre 2015 indossa gli occhiali per correggere la miopia di 1 grado e contenere lo strabismo verticale. Anita ora è alta 106cm e pesa 16kg.

Anita turns 7.
Anita has this year started the first grade. She communicates with classmates and teachers through the LIS (international sign language). Now we are thinking of trying to communicate using augmentative communication (AAC). She brings daily hearing aids with benefit but does not speak, just says "mama" and called her brother "ale". She is a very curious child, she began using the tablet, but it is not accurate in the use of the fingers, and to become interested in television programs. She plays with dolls and stuffed animals, especially dogs. She loves animals very much and is not afraid of insects, we play safely in the garden. She now gets angry like all the kids and cross your arms hurt. She now tries to go to the bathroom alone successfully, put the diaper only at night. She now walks quietly alone, manages to jump feet together and to go up and down the steps independently, a step every step. This year she has not had for the first time afraid of the sea, and she takes a bath quietly with armrests. She underwent two surgeries to baby teeth, they removed the incisors and some decayed molar. We now expect that to grow new teeth. Continues to eat pureed foods, can not stand whole food in the mouth, but now finally it warns us when he is hungry. She since October 2015 wearing glasses to correct myopia of 1 degree and to contain the vertical strabismus. Anita is now 106cm high and weighs 16kg.

Daniele Frisone