Children and Adults Affected by Cri Du Chat Syndrome: Care's Recommendations

Abstract

Our objective is to collect data and information for a better care and follow up in Cri du Chat patients. We conducted a literature review in August 2017 and then discuss the outcomes within the ABC (Associazione Bambini Cri du Chat, Italian CdC families support group). A proposal for clinical, laboratory and imaging work up should be performed at various ages in CdC patients. Follow up and rehabilitation should continue lifelong as some improvements can be obtained also in older ages and not to lose acquired skills.

Perioperative Care of a Child With Cri Du Chat Syndrome

“…Other health problems associated with CdCS include swallowing and feeding difficulties, poor weight gain and physical growth retardation, recurrent infections such as otitis and pneumonia, orthopedic deformities including scoliosis, and involvement of the CNS (hyperacusis and abnormalities involving the brainstem and cerebellar hypoplasia) [5,22]. Seizures have been reported in up to 10% of patients [22][23][24].…”

“…Additional phenotypic characteristics include microcephaly, facial dysmorphism (epicanthus, wide nasal bridge, short philtrum, flattened maxilla, micrognathia, hypertelorism), hypotonia, intellectual disability with developmental delay, and congenital heart disease (CHD) [2,3]. The severity of its clinical manifestations and phenotypic expression varies based on the magnitude of the chromosomal deletion [3][4][5][6].…”

Síndrome de Cri du Chat: consideraciones en odontología. Revisión sistemática

“…Si se considerando que el material genético perdido no es recuperable (9) y que las consecuencias físicas e intelectuales se evidencian desde los primeros momentos de vida, es imprescindible manejar y seguir a estos pacientes de manera multidisciplinar para mejorar su calidad de vida y la de sus familiares (22). Al entender la ausencia de un posible tratamiento preventivo o curativo, es básico que los profesionales de la salud enfoquen su plan de tratamiento en controlar las alteraciones fenotípicas manifestadas por el síndrome de acuerdo con la situación particular de cada paciente (23). Es clave implementar estrategias educativas entre médicos pediatras, odontólogos, psicólogos, neuropsiquiatras infantiles, logopedas (fonoaudiólogos) y padres de familia, con el fin de mejorar la vida de estos pacientes.…”

Chẩn đoán hội chứng Cri du chat bằng kỹ thuật G-Banding

“…Những đặc trưng thường gặp nhất bao gồm: tiếng khóc như mèo kêu, bất thường trên khuôn mặt (đầu nhỏ, hàm nhỏ, mặt tròn), cong vẹo cột sống, tầm vóc thấp, thoát vị bẹn, gãy xương tái phát, chậm phát triển. Các bất thường khác có thể gặp phải: bất thường tim mạch, bất thường về thần kinh và thận [3].…”