Clinical Judgement and

Decision Making for Adult

Nursing
[Writer]
[Institute]
[Date]
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Clinical Judgement and Decision Making for Adult Nursing

Introduction

As a qualified Registered nurse, I have a case of Melissa, a 24 year old white British female who
was diagnosed with Angelman Syndrome (AS) at 2 years of age, and in this report I am going to
present what I would do and why by addressing the given situation. In this report, I present my
clinical judgment and decision making regarding the case of Melissa.

Clinical Judgment and Decision Making for Melissa

Harry Angelman, an English paediatrician, was the first who described Angelman Syndrome
(AS) as happy puppet syndrome (cited in Thibert et al., 2013). However, Williams and Frias
comprehensively documented the natural history of AS later in 1982 (cited in Dan, 2009).

AS has some major characteristic features, which are frequent sudden uncontrollable attack of
ataxia, learning or intellectual disability, seizures, sleep disturbances, laughter and a
characteristic behavioural profile, as in Melissa’s case, with hold-up in developmental goals with
learning difficulties and language impairment (Clayton-Smith, 2003; Bird, 2014). Some type of
seizures throughout the lifespan is experienced by the majority of patients with AS (Pittalà,
Cocuzza and Sorge, 2010) and Melissa is one of them.

In AS, flexion and tonic extension-type seizures are not often described. myoclonic seizures,
along with atypical absence and atonic are the most frequent types of seizures. Case of Melissa
reveals she has also myoclonic seizures that are a common feature with AS.

Campistol, Conill and Sanmartí (2005) described a series of 35 patients, in which just 17% (n=6)
had extensor spasms and 6% (n=2) had flexion-type seizures. In their study, Pittalà, Cocuzza and
Sorge (2010), half of the participants experienced myclonic seizures, atypical absence, atonic or
generalized tonic-clonic, of patients with 15q11-q13 deletion. In a study conducted by Saitoh et
al. (1994), even though seizures were developed by a small number of participants (25%) in the
first year of life, seizures were developed by a large number of participants (85%) by the age of 3
years (Clayton-Smith, 1993). This is why the case of Melissa is strange to some extent as AS has
been developed at mature age. However, diagnosis and treatment of Melissa’s seizures need to
be achieved at first, with effective control of seizures and enhanced developmental goals, which
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would consume around 4 months. This clinical judgement as observation regarding AS is new, as
in Clayton-Smith’s (1993) study a large number of cases reflect in later life and the seizures are
not very easy to control. It clearly suggests that genetic confirmation at the earlier stage assists in
successful management.

In Ahn, Flinter and Ogilvie (2014) study, various disabilities were experienced by patients with a
chromosome 15q11.2 deletion, such as autistic spectrum disorder (ASD), intellectual disability,
motor delay, delay in speech and language delay, epilepsy and schizophrenia. Likewise, in
Pasion’s et al. (2011) study, there are a meaningful number of patients, who were affected by
idiopathic generalised epilepsy and who have then been corroborated to have a chromosome
15q11.2 deletion.

Boyd, Harden and Patton (1988) described three EEG patterns in a patient affected by AS, and
after a decade Valente et al. (2003) described four EEG patterns, which include a
hypsarrhythmia-like variant; a triphasic-like variant; a vague, sluggish, spike-and-wave variant
and a slow variant. However, any of these EEG patterns are not shown by Melissa.

The effectiveness of Valproic acid (VPA) and clonazepam (CNZ) is much more as they have the
strong potential to effectively control seizures in Melissa and these agents will be used as
monotherapy. Despite anything to the contrary, there may be some patients who require a blend
of CNZ and VPA, corroborated by Pittalà, Cocuzza and Sorge (2010) and Ahn, Flinter and
Ogilvie (2014).

Seizures of Melissa would effectively be controlled with a blend of VPA and CNZ.

Conclusion

AS because of a microdeletion of chromosome 15q11.2 region is frequently not determined by

physicians, especially in infancy. Typically, seizure types in AS are not described by extensor
and flexor spasms, and Melissa’s seizures, in the current case, would respond well to a blend of
CNZ and VPA. Although characteristic EEG patterns exist, EEG scans of Melissa did not
communicate any of the EEG patterns. Nevertheless, it is important to take other EEG patterns
into consideration in a patient with AS. Clinicians need to consider other likely seizure types in
AS patients and appropriately treat them.
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References

Ahn, J., Flinter, F. and Ogilvie, C. (2014). Phenotypic features in patients with 15q11.2(BP1-
BP2) deletion: Further delineation of an emerging syndrome. American Journal of Medical
Genetics Part A, 164(8), pp.1916-1922.

Bird, L. (2014). Angelman syndrome: review of clinical and molecular aspects. The Application
of Clinical Genetics, p.93.

Boyd, S., Harden, A. and Patton, M. (1988). The EEG in early diagnosis of the Angelman
(Happy Puppet) syndrome. European Journal of Pediatrics, 147(5), pp.508-513.

Campistol, J., Conill, J. and Sanmartí, F. (2005). Analysis of the characteristics of epilepsy in 37
patients with the molecular diagnosis of Angelman syndrome. Epileptic Disord, 7(1), pp.19–
25.

Clayton-Smith, J. (1993). Clinical research on Angelman syndrome in the United Kingdom:

Observations on 82 affected individuals. American Journal of Medical Genetics, 46(1), pp.12-
15.

Clayton-Smith, J. (2003). Angelman syndrome: a review of the clinical and genetic

aspects. Journal of Medical Genetics, 40(2), pp.87-95.

Dan, B. (2009). Angelman syndrome: Current understanding and research prospects. Epilepsia,
50(11), pp.2331-2339.

Pasion, R., Mikhail, F., Carroll, A., Robin, N., Youngs, E., Gadi, I., Keitges, E., Jaswaney, V.,
Papenhausen, P., Potluri, V., Risheg, H., Rush, B., Smith, J., Schwartz, S., Tepperberg, J. and
Butler, M. (2011). Microdeletion/microduplication of proximal 15q11.2 between BP1 and
BP2: a susceptibility region for neurological dysfunction including developmental and
language delay. Human Genetics, 130(4), pp.517-528.

Pittalà, A., Cocuzza, M. and Sorge, G. (2010). Epilepsy in patients with Angelman
syndrome. Italian Journal of Pediatrics, 36(1), p.31.

Saitoh, S., Harada, N., Jinno, Y., Hashimoto, K., Imaizumi, K., Kuroki, Y., Fukushima, Y.,
Sugimoto, T., Renedo, M., Wagstaff, J., Lalande, M., Mutirangura, A., Kuwano, A.,
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Ledbetter, D. and Niikawa, N. (1994). Molecular and clinical study of 61 Angelman syndrome
patients. American Journal of Medical Genetics, 52(2), pp.158-163.

Thibert, R., Larson, A., Hsieh, D., Raby, A. and Thiele, E. (2013). Neurologic Manifestations of
Angelman Syndrome. Pediatric Neurology, 48(4), pp.271-279.

Valente, K., Andrade, J., Grossmann, R., Kok, F., Fridman, C., Koiffmann, C. and Marques-
Dias, M. (2003). Angelman Syndrome: Difficulties in EEG Pattern Recognition and Possible
Misinterpretations. Epilepsia, 44(8), pp.1051-1063.